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Articles de revues sur le sujet « Acute hepatic porphyrias »

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Publié le 29 mars 2025

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1

Balwani, Manisha, et Robert J. Desnick. « The porphyrias : advances in diagnosis and treatment ». Hematology 2012, no 1 (8 décembre 2012) : 19–27. http://dx.doi.org/10.1182/asheducation.v2012.1.19.3795678.

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Abstract The inborn errors of heme biosynthesis, the porphyrias, are 8 genetically distinct metabolic disorders that can be classified as “acute hepatic,” “hepatic cutaneous,” and “erythropoietic cutaneous” diseases. Recent advances in understanding their pathogenesis and molecular genetic heterogeneity have led to improved diagnosis and treatment. These advances include DNA-based diagnoses for all the porphyrias, new understanding of the pathogenesis of the acute hepatic porphyrias, identification of the iron overload-induced inhibitor of hepatic uroporphyrin decarboxylase activity that causes the most common porphyria, porphyria cutanea tarda, the identification of an X-linked form of erythropoietic protoporphyria due to gain-of-function mutations in erythroid-specific 5-aminolevulinate synthase (ALAS2), and new and experimental treatments for the erythropoietic prophyrias. Knowledge of these advances is relevant for hematologists because they administer the hematin infusions to treat the acute attacks in patients with the acute hepatic porphyrias, perform the chronic phlebotomies to reduce the iron overload and clear the dermatologic lesions in porphyria cutanea tarda, and diagnose and treat the erythropoietic porphyrias, including chronic erythrocyte transfusions, bone marrow or hematopoietic stem cell transplants, and experimental pharmacologic chaperone and stem cell gene therapies for congenital erythropoietic protoporphyria. These developments are reviewed to update hematologists on the latest advances in these diverse disorders.
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Balwani, Manisha, et Robert J. Desnick. « The porphyrias : advances in diagnosis and treatment ». Blood 120, no 23 (29 novembre 2012) : 4496–504. http://dx.doi.org/10.1182/blood-2012-05-423186.

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Abstract The inborn errors of heme biosynthesis, the porphyrias, are 8 genetically distinct metabolic disorders that can be classified as “acute hepatic,” “hepatic cutaneous,” and “erythropoietic cutaneous” diseases. Recent advances in understanding their pathogenesis and molecular genetic heterogeneity have led to improved diagnosis and treatment. These advances include DNA-based diagnoses for all the porphyrias, new understanding of the pathogenesis of the acute hepatic porphyrias, identification of the iron overload-induced inhibitor of hepatic uroporphyrin decarboxylase activity that causes the most common porphyria, porphyria cutanea tarda, the identification of an X-linked form of erythropoietic protoporphyria due to gain-of-function mutations in erythroid-specific 5-aminolevulinate synthase (ALAS2), and new and experimental treatments for the erythropoietic prophyrias. Knowledge of these advances is relevant for hematologists because they administer the hematin infusions to treat the acute attacks in patients with the acute hepatic porphyrias, perform the chronic phlebotomies to reduce the iron overload and clear the dermatologic lesions in porphyria cutanea tarda, and diagnose and treat the erythropoietic porphyrias, including chronic erythrocyte transfusions, bone marrow or hematopoietic stem cell transplants, and experimental pharmacologic chaperone and stem cell gene therapies for congenital erythropoietic protoporphyria. These developments are reviewed to update hematologists on the latest advances in these diverse disorders.
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Ricci, Andrea, Claudio Carmine Guida, Paola Manzini, Chiara Cuoghi et Paolo Ventura. « Kidney Involvement in Acute Hepatic Porphyrias : Pathophysiology and Diagnostic Implications ». Diagnostics 11, no 12 (10 décembre 2021) : 2324. http://dx.doi.org/10.3390/diagnostics11122324.

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Porphyrias are a group of rare disorders originating from an enzyme dysfunction in the pathway of heme biosynthesis. Depending on the specific enzyme involved, porphyrias manifest under drastically different clinical pictures. The most dramatic presentation of the four congenital acute hepatic porphyrias (AHPs: acute intermittent porphyria—AIP, ALAD deficiency, hereditary coproporphyria—HCP, and porphyria variegata—VP) consists of potentially life-threatening neurovisceral attacks, for which givosiran, a novel and effective siRNA-based therapeutic, has recently been licensed. Nonetheless, the clinical manifestations of acute porphyrias are multifaceted and do not limit themselves to acute attacks. In particular, porphyria-associated kidney disease (PAKD) is a distinct, long-term degenerating condition with specific pathological and clinical features, for which a satisfactory treatment is not available yet. In PAKD, chronic tubule-interstitial damage has been most commonly reported, though other pathologic features (e.g., chronic fibrous intimal hyperplasia) are consistent findings. Given the relevant role of the kidney in porphyrin metabolism, the mechanisms possibly intervening in causing renal damage in AHPs are different: among others, δ-aminolevulinic acid (ALA)-induced oxidative damage on mitochondria, intracellular toxic aggregation of porphyrins in proximal tubular cells, and derangements in the delicate microcirculatory balances of the kidney might be implicated. The presence of a variant of the human peptide transporter 2 (PEPT2), with a greater affinity to its substrates (including ALA), might confer a greater susceptibility to kidney damage in patients with AHPs. Furthermore, a possible effect of givosiran in worsening kidney function has been observed. In sum, the diagnostic workup of AHPs should always include a baseline evaluation of renal function, and periodic monitoring of the progression of kidney disease in patients with AHPs is strongly recommended. This review outlines the role of the kidney in porphyrin metabolism, the available evidence in support of the current etiologic and pathogenetic hypotheses, and the known clinical features of renal involvement in acute hepatic porphyrias.
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Erwin, Angelika L., et Manisha Balwani. « Porphyrias in the Age of Targeted Therapies ». Diagnostics 11, no 10 (29 septembre 2021) : 1795. http://dx.doi.org/10.3390/diagnostics11101795.

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The porphyrias are a group of eight rare genetic disorders, each caused by the deficiency of one of the enzymes in the heme biosynthetic pathway, resulting in the excess accumulation of heme precursors and porphyrins. Depending on the tissue site as well as the chemical characteristics of the accumulating substances, the clinical features of different porphyrias vary substantially. Heme precursors are neurotoxic, and their accumulation results in acute hepatic porphyria, while porphyrins are photoactive, and excess amounts cause cutaneous porphyrias, which present with photosensitivity. These disorders are clinically heterogeneous but can result in severe clinical manifestations, long-term complications and a significantly diminished quality of life. Medical management consists mostly of the avoidance of triggering factors and symptomatic treatment. With an improved understanding of the underlying pathophysiology and disease mechanisms, new treatment approaches have become available, which address the underlying defects at a molecular or cellular level, and promise significant improvement, symptom prevention and more effective treatment of acute and chronic disease manifestations.
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Bonkovsky, Herbert L. « Neurovisceral Porphyrias : What a Hematologist Needs to Know ». Hematology 2005, no 1 (1 janvier 2005) : 24–30. http://dx.doi.org/10.1182/asheducation-2005.1.24.

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Abstract The acute or inducible hepatic porphyrias comprise four inherited disorders of heme biosynthesis. They usually remain asymptomatic for most of the lifespan of individuals who inherit the specific enzyme deficiencies but may cause life-threatening attacks of neurovisceral symptoms. Failure to consider the diagnosis frequently delays effective treatment, and inappropriate diagnostic tests and/or mistaken interpretation of results may lead to misdiagnosis and inappropriate treatment. The four disorders are ALA dehydratase deficiency porphyria, acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria. Other conditions that clinically and biochemically may mimic acute porphyria include lead poisoning and hereditary tyrosinemia type I. The diagnosis of one of these acute porphyric syndromes should be considered in many patients with otherwise unexplained abdominal pain, severe constipation, systemic arterial hypertension, or other characteristic symptoms. Critical to the rapid diagnosis of the three most common of these disorders is demonstration of markedly increased urinary porphobilinogen (PBG) in a single-void urine specimen. The treatment of choice for all but mild attacks of the acute porphyrias is intravenous hemin therapy, which should be started as soon as possible. Intravenous glucose alone is recommended only for mild attacks (no weakness or hyponatremia) or until hemin is available.
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Czekaj, Aleksandra, Kinga Ruszel, Robert Dubel, Julia Dubel et Natalia Namroży. « Acute hepatic porphyria - classification, diagnosis and treatment ». Journal of Education, Health and Sport 13, no 1 (25 novembre 2022) : 117–22. http://dx.doi.org/10.12775/jehs.2023.13.01.019.

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Porphyrias belong to the group of inherited metabolic diseases. Each of the four types of acute hepatic porphyria is caused by a different mutation in the gene of an enzyme involved in the heme biosynthetic pathway. The literature distinguishes between: Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP) and Aminolevulinic Dehydratic ADP (ADP) deficiency. -deficient Porphyria). Deficiency of individual enzymes leads to ineffective heme production and accumulation of neurotoxic intermediates - the so-called porphyrins. Two excess metabolites are of major importance in diagnostics - ALA (amionolevulinic acid) and PBG (porphobilinogen). In most cases, the activity of the less functional enzyme is so high that the disease never becomes apparent (latent form). Excessive accumulation of porphyrin precursors is associated with exposure to porphyrinogenic factors, leading to a seizure whose symptoms are closely related to autonomic, peripheral neuropathy, and accompanying neuropsychiatric disorders. In diagnostics, particular attention should be paid to the circumstances of the symptoms and the history of the patient's disease, which often includes numerous episodes of unexplained abdominal pain, which was so severe that it forced the patient to report to emergency departments. A severe attack of porphyria is a medical emergency and requires hospitalization. Failure to diagnose or properly treat it may result in flaccid tetraplegia, respiratory failure, brain edema, coma, and sudden circulation detention.
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Trier, Henry, Vikram P. Krishnasamy et Pashtoon Murtaza Kasi. « Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias ». Case Reports in Hematology 2013 (2013) : 1–6. http://dx.doi.org/10.1155/2013/628602.

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The porphyrias are a group of disorders characterized by an enzyme deficiency in the heme biosynthetic pathway. These can be classified into either erythropoietic or hepatic forms depending on the site of the major enzyme deficiency. The diagnosis of acute porphyrias, however, can be very challenging due to overlapping features amongst the various types. Initial suspicion is based on a myriad of clinical manifestations, which then are confirmed by laboratory testing where available. Genetic testing is now also available for the different types of porphyrias, aiding in the definitive diagnosis. Here, we present a challenging case of porphyria in a patient with end-stage renal disease and present the diagnostic challenges associated with the case and the ways forward.
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Wang, Bruce. « The acute hepatic porphyrias ». Translational Gastroenterology and Hepatology 6 (avril 2021) : 24. http://dx.doi.org/10.21037/tgh-2020-01.

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Wang, Bruce. « The acute hepatic porphyrias ». Translational Gastroenterology and Hepatology 6 (avril 2021) : 24. http://dx.doi.org/10.21037/tgh-2019-rld-05.

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10

Dwyer, Barney E., Meghan L. Stone, Xiongwei Zhu, George Perry et Mark A. Smith. « Heme Deficiency in Alzheimer’s Disease : A Possible Connection to Porphyria ». Journal of Biomedicine and Biotechnology 2006 (2006) : 1–5. http://dx.doi.org/10.1155/jbb/2006/24038.

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Mechanisms that cause Alzheimer’s disease (AD), an invariably fatal neurodegenerative disease, are unknown. Important recent data indicate that neuronal heme deficiency may contribute to AD pathogenesis. If true, factors that contribute to the intracellular heme deficiency could potentially alter the course of AD. The porphyrias are metabolic disorders characterized by enzyme deficiencies in the heme biosynthetic pathway. We hypothesize that AD may differ significantly in individuals possessing the genetic trait for an acute hepatic porphyria. We elaborate on this hypothesis and briefly review the characteristics of the acute hepatic porphyrias that may be relevant to AD. We note the proximity of genes encoding enzymes of the heme biosynthesis pathway to genetic loci linked to sporadic, late-onset AD. In addition, we suggest that identification of individuals carrying the genetic trait for acute porphyria may provide a unique resource for investigating AD pathogenesis and inform treatment and management decisions.
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Cerbino, G. N., L. Abou Assali, L. S. Varela, L. Tomassi, A. Batlle, V. E. Parera et M. V. Rossetti. « Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies ». Case Reports in Genetics 2020 (15 octobre 2020) : 1–6. http://dx.doi.org/10.1155/2020/8873219.

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Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates. Porphyria cutanea tarda (PCT) is the most common porphyria and is due to deficient activity of uroporphyrinogen decarboxylase (UROD). Acute intermittent porphyria (AIP) is the most common of the acute hepatic porphyrias, caused by decreased activity of hydroxymethylbilane synthase (HMBS). An Argentinean man with a family history of PCT who carried the UROD variant c.10_11insA suffered severe abdominal pain. Biochemical testing was consistent with AIP, and molecular analysis of HMBS revealed a de novo variant: c.344 + 2_ + 5delTAAG. This is one of the few cases of porphyria identified with both UROD and HMBS mutations and the first confirmed case of porphyria with dual enzyme deficiencies in Argentina.
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Souza, Paulo Victor Sgobbi de, Bruno de Mattos Lombardi Badia, Igor Braga Farias, Eduardo Augusto Gonçalves, Wladimir Bocca Vieira de Rezende Pinto et Acary Souza Bulle Oliveira. « Acute hepatic porphyrias for the neurologist : current concepts and perspectives ». Arquivos de Neuro-Psiquiatria 79, no 1 (janvier 2021) : 68–80. http://dx.doi.org/10.1590/0004-282x20200096.

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ABSTRACT Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis. Objective: We aimed to review the main clinical and therapeutic aspects associated with acute hepatic porphyrias. Methods: The authors provided a wide non-systematic review of current concepts and recently acquired knowledge about acute hepatic porphyrias. Results: Acute neurovisceral attacks are the most common and life-threatening presentation of this group and are often considered the main clinical manifestation by clinicians during differential diagnosis and the start of proper diagnostic work-up for acute porphyrias. However, atypical presentations with central nervous system involvement, neuropsychiatric disturbances, and some subtypes with photosensitivity usually make the definite diagnosis difficult and late. Early therapeutic interventions are essential during emergency treatment and intercritical periods to avoid recurrent severe presentations. The availability of new disease-modifying therapeutic proposals based on small interfering RNA (siRNA)-based therapies, complementary to the classic intravenous glucose infusion and hemin-based treatments, emphasizes the importance of early diagnosis and genetic counseling of patients. Conclusions: This review article highlights the main biochemical, pathophysiological, clinical, and therapeutic aspects of acute hepatic porphyrias in clinical practice.
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Manceau, Hana, Laurent Gouya et Hervé Puy. « Acute hepatic and erythropoietic porphyrias ». Current Opinion in Hematology 24, no 3 (mai 2017) : 198–207. http://dx.doi.org/10.1097/moh.0000000000000330.

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Ricci, Andrea, Elena Di Pierro, Matteo Marcacci et Paolo Ventura. « Mechanisms of Neuronal Damage in Acute Hepatic Porphyrias ». Diagnostics 11, no 12 (26 novembre 2021) : 2205. http://dx.doi.org/10.3390/diagnostics11122205.

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Porphyrias are a group of congenital and acquired diseases caused by an enzymatic impairment in the biosynthesis of heme. Depending on the specific enzyme involved, different types of porphyrias (i.e., chronic vs. acute, cutaneous vs. neurovisceral, hepatic vs. erythropoietic) are described, with different clinical presentations. Acute hepatic porphyrias (AHPs) are characterized by life-threatening acute neuro-visceral crises (acute porphyric attacks, APAs), featuring a wide range of neuropathic (central, peripheral, autonomic) manifestations. APAs are usually unleashed by external “porphyrinogenic” triggers, which are thought to cause an increased metabolic demand for heme. During APAs, the heme precursors δ-aminolevulinic acid (ALA) and porphobilinogen (PBG) accumulate in the bloodstream and urine. Even though several hypotheses have been developed to explain the protean clinical picture of APAs, the exact mechanism of neuronal damage in AHPs is still a matter of debate. In recent decades, a role has been proposed for oxidative damage caused by ALA, mitochondrial and synaptic ALA toxicity, dysfunction induced by relative heme deficiency on cytochromes and other hemeproteins (i.e., nitric oxide synthases), pyridoxal phosphate functional deficiency, derangements in the metabolic pathways of tryptophan, and other factors. Since the pathway leading to the biosynthesis of heme is inscribed into a complex network of interactions, which also includes some fundamental processes of basal metabolism, a disruption in any of the steps of this pathway is likely to have multiple pathogenic effects. Here, we aim to provide a comprehensive review of the current evidence regarding the mechanisms of neuronal damage in AHPs.
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Tsygankova, O. V., T. I. Pospelova, T. A. Tuguleva, I. Abdul Sater, V. V. Veretyuk et A. B. Krivosheev. « Diabetic polyneuropathy as a mask of acute intermittent porphyria in a middle-aged woman ». Experimental and Clinical Gastroenterology, no 9 (6 mars 2025) : 212–16. https://doi.org/10.31146/1682-8658-ecg-229-9-212-216.

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Introduction. Porphyrias are a group of metabolic diseases caused by hereditary defects in the enzymatic system of heme biosynthesis. According to the modern classification porphyrias are considered independent diseases, which are caused by specific enzymatic defects, resulting in certain disorders of porphyrin metabolism and peculiarities of the clinical course of the disease. Acute intermittent porphyria (AIP) occupies a special position in the group of hepatic porphyrias by its biochemical and clinical features and unfavorable prognosis. Materials and Methods. We present a brief review of the literature on the problem of AIP and our own clinical case report. А 49-year-old female patient P. with type 2 diabetes mellitus, was followed by internists, endocrinologists, neurologists for about 8-10 years. She was repeatedly hospitalized in specialized departments and underwent complex examination. Results. During the follow-up the patient experienced increasing abdominal pain and numbness in the upper and lower extremities, and gait disturbance. Pink-colored urine was observed. A porphyrin metabolism disorder was suggested. Verification of AIP was performed by quantitative determination of the excretory profile of porphyrins. Elevation of porphyrin precursors (δ-aminolevulinic acid and porphobilinogen) are the main criteria for confirming diagnosis. Conclusion. When analyzing the cause of AIP manifestation, it was found that due to concomitant pathologies the patient has been exposed to a number of drugs with porphyrinogenic effect. In addition, the symptoms of AIP were probably masked by manifestations of diabetic gastropathy and polyneuropathy.
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Griffith, Harry S. « Hemin Prophylaxis for Patients with Frequently Recurring Acute Porphyric Attacks : Experience with Five Cases. » Blood 106, no 11 (16 novembre 2005) : 3545. http://dx.doi.org/10.1182/blood.v106.11.3545.3545.

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Abstract Background The acute porphyrias are a group of four clinically indistinguishable diseases characterized by sudden, acute episodes of neurovisceral symptoms that can be life-threatening. Attacks are precipitated by a genetic deficiency in one of the enzymes involved in heme biosynthesis, acting in concert with one or more endogenous or exogenous triggers. The resultant stimulation of hepatic heme results in overproduction of highly reactive heme intermediaries - porphyrins and porphyrin precursors - which accumulate in the liver, blood, and bone marrow. A small percentage of patients have attacks that recur every several weeks, even after all known triggers are eliminated. Although hemin prophylaxis has been recommended for such patients (Anderson K, et al. Recommendations for the Diagnosis and Treatment of the Acute Porphyrias. Annals of Internal Medicine. 2005 Mar; 142(6):439–50), no adequate and well-controlled clinical studies have been conducted. Methods We report on five patients, all diagnosed with acute porphyria on the basis of elevated levels of urinary aminolevulinic acid and porphobilinogen (4 with acute intermittent porphyria, 1 with hereditary coproporphyria). All had a history of recurring acute porphyric attacks and received hemin prophylaxis for at least one year in an out-patient setting and were previously treated for a minimum of one year in a hospital setting. The dosage and frequency of prophylactic hemin was based on each patient’s clinical picture, and ranged from a one-day course of 1–4mg/kg/day every 10 to 40 days to a four day-course of 1–4 mg/kg/day every 30 days. The outcome of prophylaxis hemin treatment was determined on the basis of frequency of severe attacks requiring hospitalization and both physician and patient assessment of the severity of symptoms. Results Five patients (3 female, 2 male), ranging in age from 25–61 years old suffered from frequently recurring acute porphyric attacks, with symptoms that included abdominal pain (5), psychological disturbances (2), peripheral motor neuropathy (2), and nausea (2). Two patients had a significant reduction in the frequency of their acute attacks and three reported a moderate decrease with prophylactic hemin treatment. All five patients experienced a marked improvement in the reduction of the severity of their attacks. Overall, the occurrence of severe acute attacks requiring hospitalization declined by 66%. Three of the five patients did not require hospitalization over the 12 month period of time. One patient experienced phlebitis during one course of hemin treatment. Conclusions Hemin prophylaxis can be an effective disease management strategy in acute porphyria patients with frequently recurring acute attacks.
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Savic, Zeljka, Vladimir Vracaric, Ljiljana Hadnadjev, Zora Petrovic et Dragomir Damjanov. « Hereditary coproporphyria from clinician’s point of view : A case report ». Medical review 66, no 9-10 (2013) : 411–15. http://dx.doi.org/10.2298/mpns1310411s.

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Introduction. Acute hepatic porphyrias can mimic a range of unrelated diseases and conditions that may occur independently of porphyria and trigger their initial manifestations and further attacks. Case Report. A 46-year-old female patient was subjected to cholecystectomy for biliary colic. Histopathological analysis revealed acute purulent exacerbation of chronic cholecystitis. On the 8th day post surgery, the patient was rehospitalized for nausea, abdominal pain, weakness and faintness, poor general condition, hypertension, tachycardia, apathy and profuse sweating. Laboratory findings revealed hyponatremia, hypokalemia, and metabolic alkalosis. Exploratory laparotomy did not detect a pathomorphological substrate. The patient was transferred to surgery department of the tertiary care institution. Due to metabolic imbalance, she was transferred to the Department of Endocrinology with signs of paleness, profuse sweating, tachycardia, and tachydyspnoea. The cardiologist performed echocardiography. The patient was diagnosed to have acute left ventricular failure and sub-acute myocardial infarction and transferred to the Department of Cardiology. Coronarography findings were normal. Cramps and pain in the legs with sensory loss, general weakness, apathy and mental confusion suggested acute hepatic porphyria. Thus, hereditary coproporphyria was diagnosed in the second month of illness. The treatment was continued at the Department of Gastroenterology. Clinical manifestations included polyneuropathy, flaccid paraparesis and acute brain syndrome, precordial oppressions and tachycardia. Haem arginate and hypertonic glucose were applied. The condition of the patient gradually improved. Conclusion. Porphyrias should always be taken into consideration in doubtful, frequently dramatic clinical pictures characterized by neurovisceral symptoms and precipitating factors of acute porphyria attacks must never be neglected.
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Francesca, Granata, Annamaria Nicolli, Alessia Colaiocco, Elena Di Pierro et Giovanna Graziadei. « Psychological Aspect and Quality of Life in Porphyrias : A Review ». Diagnostics 12, no 5 (10 mai 2022) : 1193. http://dx.doi.org/10.3390/diagnostics12051193.

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The World Health Organization (WHO) describes “health” as a state of physical, mental, and social well-being and not merely the absence of disease or infirmity. Therefore, a biopsychosocial approach should be considered as an integral part of patients’ management. In this review, we summarize the available data starting from 1986 on the biological, psychological, and social aspects of porphyrias in order to provide a useful tool for clinicians about the missing knowledge within this field. Porphyrias are a group of rare metabolic disorders affecting the heme biosynthetic pathway and can be categorized into hepatic and erythropoietic. Here, a total of 20 articles reporting the psychological and the quality of life (QoL) data of porphyria patients affected by acute hepatic porphyrias (AHPs), Porphyria Cutanea Tarda (PCT), and Erythropoietic Protoporphyria (EPP) were analyzed. These 13 articles include reported quantitative methods using questionnaires, while the reaming articles employed qualitative descriptive approaches through direct interviews with patients by psychology professionals. We conclude that the use of questionnaires limits the complete description of all areas of a patient’s life compared to a direct interview with specialists. However, only a combined use of these methods could be the best approach for the correct disorder management.
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Ricci, Andrea, Gilda Sandri, Matteo Marcacci, Elena Di Pierro, Francesca Granata, Chiara Cuoghi, Stefano Marchini, Antonello Pietrangelo et Paolo Ventura. « Endothelial Dysfunction in Acute Hepatic Porphyrias ». Diagnostics 12, no 6 (24 mai 2022) : 1303. http://dx.doi.org/10.3390/diagnostics12061303.

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Background Acute hepatic porphyrias (AHPs) are a group of rare diseases caused by dysfunctions in the pathway of heme biosynthesis. Although acute neurovisceral attacks are the most dramatic manifestations, patients are at risk of developing long-term complications, several of which are of a vascular nature. The accumulation of non-porphyrin heme precursors is deemed to cause most clinical symptoms. Aim We measured the serum levels of endothelin-1 (ET-1) and nitric oxide (NO) to assess the presence of endothelial dysfunction (ED) in patients with AHPs. Forty-six patients were classified, according to their clinical phenotype, as symptomatic (AP-SP), asymptomatic with biochemical alterations (AP-BA), and asymptomatic without biochemical alterations (AP-AC). Results Even excluding those under hemin treatment, AP-SP patients had the lowest NO and highest ET-1 levels, whereas no significant differences were found between AP-BA and AP-AC patients. AP-SP patients had significantly more often abnormal levels of ED markers. Patients with the highest heme precursor urinary levels had the greatest alterations in ED markers, although no significant correlation was detected. Conclusions ED is more closely related to the clinical phenotype of AHPs than to their classical biochemical alterations. Some still undefined disease modifiers may possibly determine the clinical picture of AHPs through an effect on endothelial functions.
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Oliveira Santos, Miguel, et Miguel Leal Rato. « Neurology of the acute hepatic porphyrias ». Journal of the Neurological Sciences 428 (septembre 2021) : 117605. http://dx.doi.org/10.1016/j.jns.2021.117605.

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Kordac, V., et P. Martasek. « Haem arginate in acute hepatic porphyrias. » BMJ 293, no 6554 (25 octobre 1986) : 1098. http://dx.doi.org/10.1136/bmj.293.6554.1098-b.

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Brito Avô, Luís, Luísa Pereira, Anabela Oliveira, Filipa Ferreira, Paulo Filipe, Inês Coelho Rodrigues, Eduarda Couto et al. « Portuguese Consensus on Acute Porphyrias : Diagnosis, Treatment, Monitoring and Patient Referral ». Acta Médica Portuguesa 36, no 11 (2 novembre 2023) : 753–64. http://dx.doi.org/10.20344/amp.20323.

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Acute porphyrias are a group of rare genetic metabolic disorders, caused by a defect in one of the enzymes involved in the heme biosynthesis, which results in an abnormally high accumulation of toxic intermediates. Acute porphyrias are characterized by potentially life-threatening attacks and, for some patients, by chronic manifestations that negatively impact daily functioning and quality of life. Clinical manifestations include a nonspecific set of gastrointestinal, neuropsychiatric, and/or cutaneous symptoms. Effective diagnostic methods are widely available, but due to their clinical heterogeneity and non-specificity, many years often elapse from symptom onset to diagnosis of acute porphyrias, delaying the treatment and increasing morbidity. Therefore, increased awareness of acute porphyrias among healthcare professionals is paramount to reducing disease burden. Treatment of acute porphyrias is centered on eliminating the potential precipitants, symptomatic treatment, and suppressing the hepatic heme pathway, through the administration of hemin or givosiran. Moreover, properly monitoring patients with acute porphyrias and their relatives is fundamental to preventing acute attacks, hospitalization, and long-term complications. Considering this, a multidisciplinary panel elaborated a consensus paper, aiming to provide guidance for an efficient and timely diagnosis of acute porphyrias, and evidence-based recommendations for treating and monitoring patients and their families in Portugal. To this end, all authors exhaustively reviewed and discussed the current scientific evidence on acute porphyrias available in the literature, between November 2022 and May 2023.
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Oliveri, Leda M., Carlos Davio, Alcira M. del C. Batlle et Esther N. Gerez. « ALAS1 gene expression is down-regulated by Akt-mediated phosphorylation and nuclear exclusion of FOXO1 by vanadate in diabetic mice ». Biochemical Journal 442, no 2 (13 février 2012) : 303–10. http://dx.doi.org/10.1042/bj20111005.

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Porphyrias are diseases caused by partial deficiencies of haem biosynthesis enzymes. Acute porphyrias are characterized by a neuropsychiatric syndrome with intermittent induction of hepatic ALAS1 (δ-aminolaevulinate synthase 1), the first and rate-limiting enzyme of the haem pathway. Acute porphyria attacks are usually treated by the administration of glucose; its effect is apparently related to its ability to inhibit ALAS1 by modulating insulin plasma levels. It has been shown that insulin blunts hepatocyte ALAS1 induction, by disrupting the interaction of FOXO1 (forkhead box O1) and PGC-1α (peroxisome-proliferator-activated receptor γ co-activator 1α). We evaluated the expression of ALAS1 in a murine model of diabetes and determined the effects of the insulinomimetic vanadate on the enzyme regulation to evaluate its potential for the treatment of acute porphyria attacks. Both ALAS1 mRNA and protein content were induced in diabetic animals, accompanied by decreased Akt phosphorylation and increased nuclear FOXO1, PGC-1α and FOXO1–PGC-1α complex levels. Vanadate reversed ALAS1 induction, with a concomitant PI3K (phosphoinositide 3-kinase)/Akt pathway activation and subsequent reduction of nuclear FOXO1, PGC-1α and FOXO1–PGC-1α complex levels. These findings support the notion that the FOXO1–PGC-1α complex is involved in the control of ALAS1 expression and suggest further that a vanadate-based therapy could be beneficial for the treatment of acute porphyria attacks.
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Wang, Bruce. « Novel treatment options for acute hepatic porphyrias ». Current Opinion in Gastroenterology 37, no 3 (mai 2021) : 194–99. http://dx.doi.org/10.1097/mog.0000000000000734.

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Andant, Christophe, Hervé Puy, Jean Faivre et Jean-Charles Deybach. « Acute Hepatic Porphyrias and Primary Liver Cancer ». New England Journal of Medicine 338, no 25 (18 juin 1998) : 1853–54. http://dx.doi.org/10.1056/nejm199806183382518.

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GRANDCHAMP, BERNARD, HERVÉ PUY, JÉROME LAMORIL, JEAN CHARLES DEYBACH et YVES NORDMANN. « Review : Molecular pathogenesis of hepatic acute porphyrias ». Journal of Gastroenterology and Hepatology 11, no 11 (novembre 1996) : 1046–52. http://dx.doi.org/10.1111/j.1440-1746.1996.tb00035.x.

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Anderson, Karl E. « Acute hepatic porphyrias : Current diagnosis & ; management ». Molecular Genetics and Metabolism 128, no 3 (novembre 2019) : 219–27. http://dx.doi.org/10.1016/j.ymgme.2019.07.002.

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Deybach, J. « Acute hepatic porphyrias and primary liver cancer ». Journal of Hepatology 34 (avril 2001) : 229. http://dx.doi.org/10.1016/s0168-8278(01)80853-9.

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Deybach, J. P., C. J. Andant et H. V. Puy. « Acute hepatic porphyrias and primary liver cancer ». Journal of Hepatology 34 (avril 2001) : 229. http://dx.doi.org/10.1016/s0168-8278(01)81728-1.

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Wang, Bruce, Sean Rudnick, Brent Cengia et Herbert L. Bonkovsky. « Acute Hepatic Porphyrias : Review and Recent Progress ». Hepatology Communications 3, no 2 (20 décembre 2018) : 193–206. http://dx.doi.org/10.1002/hep4.1297.

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Peoc'h, Katell, Hana Manceau, Zoubida Karim, Staffan Wahlin, Laurent Gouya, Hervé Puy et Jean-Charles Deybach. « Hepatocellular carcinoma in acute hepatic porphyrias : A Damocles Sword ». Molecular Genetics and Metabolism 128, no 3 (novembre 2019) : 236–41. http://dx.doi.org/10.1016/j.ymgme.2018.10.001.

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Mustajoki, P., R. Tenhunen, O. Tokola et G. Gothoni. « Haem arginate in the treatment of acute hepatic porphyrias. » BMJ 293, no 6546 (30 août 1986) : 538–39. http://dx.doi.org/10.1136/bmj.293.6546.538-a.

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Siegesmund, Marko, Anne-Moniek van Tuyll van Serooskerken, Pamela Poblete-Gutiérrez et Jorge Frank. « The acute hepatic porphyrias : Current status and future challenges ». Best Practice & ; Research Clinical Gastroenterology 24, no 5 (octobre 2010) : 593–605. http://dx.doi.org/10.1016/j.bpg.2010.08.010.

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Doshi, Anoushka A., et Shruti B. Nelekar. « Paediatric hereditary coproporphyria : a diagnostic challenge ». International Journal of Research in Medical Sciences 11, no 9 (31 août 2023) : 3475–78. http://dx.doi.org/10.18203/2320-6012.ijrms20232814.

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Hereditary coproporphyria (HCP) is a hepatic porphyria, presenting with acute attacks of neurovisceral symptoms. We present a case of a young girl presenting with abdominal pain and vomiting episodes starting with menses. She also had severe hyponatremia and seizures. Laboratory investigations including urine and fecal protoporphyrin were negative, 10% dextrose solution and sodium level correction with supportive treatment was given. With this treatment her condition significantly improved but she presented again after a month with similar complaints at the time of her menses. Genetic testing was done and diagnosis of HCP was made. It can be concluded that considering Porphyrias in the differential diagnosis for repeat episodes of unexplained abdominal pain can help initiate early treatment and prevent complications.
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Cerbino, Gabriela Nora, Esther Noemí Gerez, Laura Sabina Varela, Viviana Alicia Melito, Victoria Estela Parera, Alcira Batlle et María Victoria Rossetti. « Acute Intermittent Porphyria in Argentina : An Update ». BioMed Research International 2015 (2015) : 1–8. http://dx.doi.org/10.1155/2015/946387.

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Porphyrias are a group of metabolic diseases that arise from deficiencies in the heme biosynthetic pathway. A partial deficiency in hydroxymethylbilane synthase (HMBS) produces a hepatic disorder named Acute Intermittent Porphyria (AIP); the acute porphyria is more frequent in Argentina. In this paper we review the results obtained for 101 Argentinean AIP families and 6 AIP families from foreign neighbour countries studied at molecular level at Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP). Thirty-five different mutations were found, of which 14 were described for the first time in our population. The most prevalent type of mutations was the missense mutations (43%) followed by splice defects (26%) and small deletions (20%). An odd case of a double heterozygous presentation of AIP in a foreign family from Paraguay is discussed. Moreover, it can be noted that 38 new families were found carrying the most frequent mutation in Argentina (p.G111R), increasing to 55.66% the prevalence of this genetic change in our population and adding further support to our previous hypothesis of a founder effect for this mutation in Argentina. Identification of patients with an overt AIP is important because treatment depends on an accurate diagnosis, but more critical is the identification of asymptomatic relatives to avoid acute attacks which may progress to death.
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Krnetic, Zarko, Tatjana Pesic, Zeljka Savic, Tatiana Jocic, Olgica Latinovic-Bosnjak, Vladimir Vracaric et Dimitrije Damjanov. « Prophylactic heme arginate therapy in acute intermittent hepatic porphyria - a case report ». Vojnosanitetski pregled, no 00 (2021) : 9. http://dx.doi.org/10.2298/vsp200629009k.

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Introduction. Among the acute hepatic porphyrias, a small percentage of patients, predominantly female, present with recurrent cyclic attacks of acute intermittent porphyria (AIP) that occurs more than three times a year, and sometimes at intervals of less than a month. In women, the attacks are typically related to menstrual cycle, requiring several days of hospitalization and administration of heme arginate. For these patients, the prophylactic heme arginate therapy may be the optimal treatment modality. Case Report. We present a 40-year-old female patient who has been suffering from porphyria for seventeen years. The first attack occurred in 2003, presenting with severe neurological symptoms, requiring the use of heme arginate Normosang?, which resulted in a favorable therapeutic response. In 2004 and 2007, gonadorelin analogue Zoladex? (goserelin) was used, but without beneficial effects on the course of the disease. In 2008, a preventive administration of heme arginate was initiated. The patient received heme arginate in the early phase of symptoms, every month in the premenstrual phase of the cycle, which resulted in milder symptoms, full recovery within 24 hours, lower doses of Normosang? (1-2 ampoules) and fewer hospital days (1-2 days) per month. This regimen has significantly improved the patient's quality of life and reduced the risk of potential adverse effects. Conclusion. Preventive use of Normosang? is the optimal therapeutic modality in patients with frequent, recurrent severe attacks that are unresponsive to other therapeutic regimens. As a result, patients have a better quality of life due to an effective, short-term, targeted treatment regimen.
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Bonkovsky, Herbert L., Natalia Dixon et Sean Rudnick. « Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs) ». Molecular Genetics and Metabolism 128, no 3 (novembre 2019) : 213–18. http://dx.doi.org/10.1016/j.ymgme.2019.03.002.

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Balwani, Manisha, Bruce Wang, Karl E. Anderson, Joseph R. Bloomer, D. Montgomery Bissell, Herbert L. Bonkovsky, John D. Phillips et Robert J. Desnick. « Acute hepatic porphyrias : Recommendations for evaluation and long-term management ». Hepatology 66, no 4 (4 septembre 2017) : 1314–22. http://dx.doi.org/10.1002/hep.29313.

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Clavero, Sonia, David F. Bishop, Mark E. Haskins, Raili Kauppinen, Urs Giger et Robert J. Desnick. « Identification and Characterization of Feline Acute Intermittent Porphyria : The First Naturally-Occurring Animal Model. » Blood 114, no 22 (20 novembre 2009) : 3014. http://dx.doi.org/10.1182/blood.v114.22.3014.3014.

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Abstract Abstract 3014 Poster Board II-990 Porphyrias are disorders of heme biosynthesis and are clinically classified as either erythroid with cutaneous involvement or hepatic with acute neurovisceral attacks in human patients. The clinical features, specific enzyme defects, biochemical abnormalities, and gene mutations have been extensively studied in humans. Here we describe clinical, biochemical, and molecular genetic studies of four unrelated lines of cats that appeared clinically to have a congenital erythropoietic porphyria (CEP), but were ultimately identified to have acute intermittent porphyria (AIP). The porphyric cats had erythrodontia, porphyrinuria, and mild anemia, but no evidence of acute life-threatening neurovisceral attacks or cutaneous lesions. Their urinary uroporphyrin I and coproporphyrin I concentrations were markedly increased (up to 650-fold and ∼10-fold, respectively). Their erythrocyte and hepatic uroporphyrinogen III synthase activities (deficient in CEP) were normal. However, all porphyric cats had '50% of normal hydroxymethylbilane synthase (HMBS) activity in erythrocytes and tissues, and increased levels of urinary 5-aminolevulinic acid and porphobilinogen. Moreover, porphyrin analysis of the discolored teeth from the porphyric cats revealed markedly elevated uroporphyrin I and coproporphyrin I isomers, thereby explaining their CEP-like phenotype. Sequencing the feline HMBS gene revealed different mutations in each of the four lines of porphyric cats: a T duplication in exon 5, c.189dupT (p.Leu64SerfsX65), which predicts a frameshift and premature stop codon, an in-frame 3 bp deletion in exon 14, c.842_844delGAG (p.delGly281), which is identical to a mutation causing AIP in a human patient, and two missense mutations: in exon 6,c.250G>A (p.Ala84Thr) and in exon 9, c.445C>T (p.Arg149Trp), the latter was also reported in a human AIP patient. Prokaryotic expression of the feline p.delGly281 and p.Arg149Trp mutations resulted in <1% residual activity, while the p.Ala84Thr missense mutation had ∼34% of the expressed feline HMB-synthase wild-type activity. Family studies further confirmed that the p.Ala84Thr missense mutation was inherited as an autosomal recessive trait with the porphyric cats being homozygous for the mutation and the parents and littermates being asymptomatic heterozygotes. In contrast, the porphyric cats from the other three lines were heterozygous for their mutations, thus reflecting the autosomal dominant inheritance observed in humans with AIP. While genetically-engineered mice with AIP have been generated, we describe here the first naturally-occurring animal models of dominant and recessive forms of AIP. Although the cats' phenotype is more similar to that of human patients with CEP, these cats may permit further characterization of the disease pathogenesis as well as the evaluation of therapeutic strategies for human patients with AIP including pharmacologic chaperone, gene replacement, transplantation, and stem cell therapies. Disclosures: No relevant conflicts of interest to declare.
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Lamoril, J., H. Puy, L. Gouya, R. Rosipal, V. Da Silva, B. Grandchamp, T. Foint et al. « Neonatal Hemolytic Anemia Due to Inherited Harderoporphyria : Clinical Characteristics and Molecular Basis ». Blood 91, no 4 (15 février 1998) : 1453–57. http://dx.doi.org/10.1182/blood.v91.4.1453.

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Abstract Porphyrias, a group of inborn errors of heme synthesis, are classified as hepatic or erythropoietic according to clinical data and the main site of expression of the specific enzymatic defect. Hereditary coproporphyria (HC) is an acute hepatic porphyria with autosomal dominant inheritance caused by deficient activity of coproporphyrinogen III oxidase (COX). Typical clinical manifestations of the disease are acute attacks of neurological dysfunction; skin photosensitivity may also be present. We report a variant form of HC characterized by a unifying syndrome in which hematologic disorders predominate: harderoporphyria. Harderoporphyric patients exhibit jaundice, severe chronic hemolytic anemia of early onset associated with hepatosplenomegaly, and skin photosensitivity. Neither abdominal pain nor neuropsychiatric symptoms are observed. COX activity is markedly decreased. In a first harderoporphyric family, with three affected siblings, a homozygous K404E mutation has been previously characterized. In the present study, molecular investigations in a second family with neonatal hemolytic anemia and harderoporphyria revealed two heterozygous point mutations in the COX gene. One allele bore the missense mutation K404E previously described. The second allele bore an A→G transition at the third position of the donor splice site in intron 6. This new COX gene mutation resulted in exon 6 skipping and the absence of functional protein production. In contrast with other COX gene defects that produce the classical hepatic porphyria presentation, our data suggest that the K404E substitution (either in the homozygous or compound heterozygous state associated with a mutation leading to the absence of functional mRNA or protein) is responsible for the specific hematologic clinical manifestations of harderoporphyria.
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Paetzold, Klaus, Joern Lohmann, Sven W. Wollschlaeger et Heiner Porst. « Multifocal accumulation of porphyrins and iron in the liver of patients with acute and chronic hepatic porphyrias mimicing hepatic metastases ». Gastroenterology 118, no 4 (avril 2000) : A1478. http://dx.doi.org/10.1016/s0016-5085(00)81814-4.

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Deybach, J. C., et H. Puy. « Hepatocellular carcinoma without cirrhosis : think acute hepatic porphyrias and vice versa ». Journal of Internal Medicine 269, no 5 (21 mars 2011) : 521–24. http://dx.doi.org/10.1111/j.1365-2796.2011.02358.x.

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Sixel-Dietrich, F., M. Doss, C. H. Pfeil et H. Solcher. « Acute Lead Intoxication due to Intravenous Injection ». Human Toxicology 4, no 3 (mai 1985) : 301–9. http://dx.doi.org/10.1177/096032718500400311.

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A case of acute lead poisoning due to intravenous injection of lead acetate is reported. The patient developed clinical and biochemical symptoms characteristic for acute hepatic porphyrias. Elevated urinary 5-aminolaevulinic acid and low porphobilinogen correlated to a lead-induced inhibition of 5-aminolaevulinic acid dehydrase with diagnostically indicative reactivation rates by zinc and dithiothreitol. Urinary coproporphyrin excretion was also increased. Additional findings included anaemia and toxic hepatitis. Under the influence of elimination therapy with D-penicillamine pathologic parameters normalized. Except for transient neuralgic pains the patient did not experience any neurologic dysfunctions, thus contrasting the findings in chronic lead intoxication.
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SAVU, Aida, Andrei EDU et Lucian NEGREANU. « Acute Hepatic Porphyria – Minireview ». Medicina Moderna - Modern Medicine 30, no 1 (23 mars 2023) : 13–16. http://dx.doi.org/10.31689/rmm.2023.30.1.13.

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Acute Hepatic Porphyria (AHP) is an uncommon and hereditary illness that belongs to a group of disorders known as porphyries. This condition results from a deficiency of the porphobilinogen deaminase enzyme, which plays a role in heme production, a crucial component of haemoglobin in the bloodstream. This deficiency leads to the accumulation of substances called porphyrins in the body, which can trigger the appearance of severe and potentially life-threatening symptoms. In the following, we will discuss classifications - with a focus on the similarities and differences between subtypes of porphyria, the pathophysiology of acute hepatic porphyria, risk factors – and their influence on the onset of the disease, clinical manifestations, diagnosis, and management – both curative and symptomatic, all of which play a very important role in understanding this rare condition.
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Marcus-Perlman, Yonit, Meir Lahav, Gabi Shefer, Naftali Stern et Yona Greenman. « Severe Hyponatremia With Partial Hypoadrenalism in Acute Porphyria ». Journal of the Endocrine Society 5, Supplement_1 (1 mai 2021) : A157. http://dx.doi.org/10.1210/jendso/bvab048.317.

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Abstract Background: Hyponatremia is the most common electrolyte-abnormality in hospitalized-patients, it increases likelihood of hospital death up-to 50% when serum Na&lt;120mEq/L. Syndrome of inappropriate ADH secretion (SIADH) is the most common cause of hyponatremia in hospital inpatients. Clinical Case: 29 years-old woman, hospitalized several times due to severe hyponatremia of 103mEq/L; Admissions were accompanied by severe abdominal-pain and vomiting. She complained of severe premenstrual syndrome with severe abdominal pain and was hospitalized twice after intrauterine insemination. She was euvolemic and due to high urinary-sodium was diagnosed with SIADH. Brain MRI, chest x-ray, thyroid-function test, and 1-mcg ACTH-test were normal. Insulin Tolerance Test for hypoadrenalism was abnormal with cortisol levels of 14.2mcg/dl and 40mg/dl glucose. She was instructed to take strong analgesics and prednisone during attacks, this did not prevent hyponatremia. Finally, due to recurrent abdominal pain, porphyria workup was done and was positive. There are 30 case-reports of porphyria and SIADH. Porphyrias are a group of 8 inherited metabolic-disorders of heme biosynthesis, often classified as hepatic or erythropoietic according to the organ in which heme precursors accumulate. Acute intermitted porphyria is estimated in ~1/75000 people of European descend, yet clinical disease is seen in ~10% of carriers. Attacks present with severe abdominal-pain, nausea, vomiting, constipation, occasionally excretion of red colored urine and signs of increased sympathetic activity. Hyponatremia due to SIADH develops in 40% of patients and can lead to convulsions. Porphyria can exacerbate by several drugs, infectious processes, alcohol, and menstruation-induced hormonal-changes. Diagnosis is made by excess of urine porphobilinogen and 5-aminolaevulinic-acid. Treatment should include avoidance of precipitating factors and hemein infusions. Conclusions: SIADH is considered responsible for the hyponatremia seen in porphyria patients. Our patient showed an abnormal cortisol response to Insulin induced hypoglycemia, in accordance to (1) that demonstrated decreased output of cortisol and metabolites in porphyria patients secondary to decreased hemoproteins, as p450 cytochromes. Importantly, levels of endogenous hormones, particularly progesterone, can trigger an attack especially in luteal phase and in clomiphene citrate administration.1. Pozo et al Orphanet Journal of Rare Diseases 2014
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Dickey, Amy K., et Rebecca K. Leaf. « Givosiran : a targeted treatment for acute intermittent porphyria ». Hematology 2024, no 1 (25 novembre 2024) : 426–33. https://doi.org/10.1182/hematology.2024000663.

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Abstract The acute hepatic porphyrias (AHPs) are a family of rare genetic diseases associated with attacks of abdominal pain, vomiting, weakness, neuropathy, and other neurovisceral symptoms. Pathogenic variants in 1 of 4 enzymes of heme synthesis are necessary for the development of AHP, and the onset of acute attacks also requires the induction of δ-aminolevulinic acid synthase 1 (ALAS1), the first and rate-limiting step of heme synthesis in the liver. Givosiran is an RNA interference medication that inhibits hepatic ALAS1 and was designed to treat AHP. In 2019 the US Food and Drug Administration approved givosiran for AHP based on positive results from a phase 3 clinical trial of 94 patients with AHP who demonstrated a marked improvement in AHP attacks and a substantial decrease in δ-aminolevulinic acid and porphobilinogen, the primary disease markers of AHP. A long-term follow-up study demonstrated continued improvement in AHP attack rates, biochemical measures of disease, and quality of life. Real-world studies have also confirmed these results. Common side effects include injection site reactions, hyperhomocysteinemia, and abnormalities of liver and renal biochemistries. This article reviews the studies that led to givosiran approval, discusses real-world clinical data, and highlights remaining questions in the treatment of AHP.
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Anderson, Karl E., Robert J. Desnick, M. Felicity Stewart, Paolo Ventura et Herbert L. Bonkovsky. « Acute Hepatic Porphyrias : “Purple Flags”—Clinical Features That Should Prompt Specific Diagnostic Testing ». American Journal of the Medical Sciences 363, no 1 (janvier 2022) : 1–10. http://dx.doi.org/10.1016/j.amjms.2021.09.009.

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Barman-Aksözen, Jasmin, Lukas Suter, Franziska Wegmann, Janine Meienberg, Anna Elisabeth Minder, Marc Beer, Paul Komminoth, Elisabeth I. Minder et Xiaoye Schneider-Yin. « A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias ». Scandinavian Journal of Clinical and Laboratory Investigation 79, no 5 (1 juin 2019) : 305–13. http://dx.doi.org/10.1080/00365513.2019.1622030.

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Kordač, Václav, Michaela Kozáková et Pavel Martásek. « Changes of Myocardial Functions in Acute Hepatic Porphyrias. Role of Heme Arginate Administration ». Annals of Medicine 21, no 4 (janvier 1989) : 273–76. http://dx.doi.org/10.3109/07853898909149205.

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Zubarioglu, Tanyel, Ertugrul Kiykim et Cigdem Aktuglu Zeybek. « An Overview of Acute Hepatic Porphyrias : Clinical Implications, Diagnostic Approaches, and Management Strategies ». Turkish Archives of Pediatrics 58, no 1 (2 janvier 2023) : 3–9. http://dx.doi.org/10.5152/turkarchpediatr.2022.22301.

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