Книги з теми "Primary hyperoxaluria type 1"

This chapter discusses oral-facial-digital type 1 syndrome (OFD1), which represents a rare syndromic form of inherited renal cystic disease associated with dysfunction of primary cilia. The disease is transmitted as an X-linked dominant male lethal trait. Embryonic lethality in affected hemizygous males is usually reported in the first and second trimesters of pregnancy. The clinical spectrum for this disease includes malformation of the face, oral cavity, and digits with a high degree of phenotypic variability, even within the same family, possibly due to X-inactivation. Renal cystic disease is present in over 65% of adult cases and is usually observed in the second and third decades of life.

Human T-cell lymphotropic virus type 1 (HTLV-1), a human retrovirus that infects an estimated 10–20 million people worldwide, has endemic foci in Japan, West and Central Africa, the Caribbean, Central and South America, and Melanesia. Also, it is the etiological agent of a lymphoproliferative malignancy, adult T-cell leukemia/lymphoma (ATLL), as well as chronic inflammatory diseases such as HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). HTLV-1 can be transmitted vertically, sexually, or by blood-borne transmission. ATLL occurs in approximately 5% of carriers who are infected during early childhood, and primary prevention is the only strategy likely to reduce this fatal disease. Children born to carrier mothers acquire the virus predominantly from breastfeeding. In endemic areas, mother-to-child transmission (MTCT) can be significantly reduced by screening pregnant women for the HTLV-1 antibody, followed by replacing breastfeeding with exclusive formula feeding. Indications for serological screening and recommendations for prevention of perinatal transmission are reviewed in this chapter.

Premature vascular disease is common in Type 1 diabetes, especially in women and those with long duration. Many studies have identified early vascular involvement, using carotid Doppler and coronary artery calcification. Symptoms of coronary heart disease are often absent or muted, and the best methods for identifying occult coronary heart disease in Type 1 patients are not known. The concept of ideal cardiovascular health is valuable in planning preventive lifestyle and medical interventions. ‘Essential’ hypertension in young Type 1 patients is common, and reflects increased arterial stiffness. Hypertension is invariable in patients with any degree of albuminuria or renal impairment. Statin treatment in patients over 40 years old is recommended, but the evidence base is weak. Statins and ezetimibe are the only agents of prognostic value currently available for prevention of vascular events. Primary prevention with aspirin needs individual assessment. Insulin resistance/metabolic syndrome is frequent in Type 1 diabetes.

This chapter describes types of errors as applied to Emergency Medicine, and in particular the Primary FRCEM examination. The chapter outlines the key details of type 1 errors and type 2 errors. This chapter is laid out exactly following the RCEM syllabus, to allow easy reference and consolidation of learning.

This chapter discusses primary prevention measures that disrupt transmission of oncogenic infections. It begins by discussing vaccination against hepatitis B virus (HBV) and human papillomavirus (HPV), two major causes of cancer for which safe and effective vaccines are currently available. It briefly discusses the importance of treatment and prophylaxis against human immunodeficiency virus type 1 (HIV-1), which potentiates the virulence of other viral infections as well as directly increasing the incidence of non-Hodgkin lymphoma. It does not discuss the treatment of HBV or hepatitis C virus (HCV) infection, since these are considered in Chapters 25 and 33. Also beyond the scope of this chapter are the randomized clinical trials currently underway to assess the efficacy and feasibility of eradication of Helicobacter pylori (Chapters 24, 31), vaccination against Epstein-Barr virus (EBV) (Chapters 24, 26, 39), or the prevention of schistosomiasis and liver flukes (Chapters 24, 33, and 52).

Native mitral valve disease is the second valvular heart disease after aortic valve disease. For the last few decades, two-dimensional Doppler echocardiography was the cornerstone technique for evaluating patients with mitral valve disease. Besides aetiological information, echocardiography allows the description of valve anatomy, the assessment of disease severity, and the description of the associated lesions.This chapter will address the echocardiographic evaluation of mitral regurgitation (MR) and mitral stenosis (MS).In MR, the following findings should be assessed: 1. Aetiology. 2. Type and extent of anatomical lesions and mechanisms of regurgitation. 3. The possibility of mitral valve repair. 4. Quantification of MR severity. 5. Quantification of MR repercussions.In MS, the following findings should be assessed: 1. Aetiology. 2. Type and extent of anatomical lesions. 3. Quantification of MS severity. 4. Quantification of MS repercussions. 5. Wilkins or Cormier scores for the possibility of percutaneous mitral commissuroplasty.Management of patients with mitral valve disease is currently based on symptoms and on echocardiographic evaluation at rest. Therefore, knowing how to assess the severity of valve diseases as well as the pitfalls and the limitations of each echocardiographic method is of primary importance.

This chapter discusses the somatic symptom disorders, which are a heterogeneous group unified by physical symptoms or concerns that are associated with prominent distress or impairment. Somatic symptom disorders are estimated to account for 1 in 10 primary care patient visits. The relative prominence of somatic symptoms is essential to the difference between illness anxiety disorder, which is an example of the obsessional/cognitive subtype (not prominent) and somatic symptom disorder,, in which the somatic symptoms are prominent. Patients with body dysmorphic disorder, also an Obsessional/Cognitive subtype, are preoccupied with a perceived defect in physical appearance. Patients with conversion disorder (functional neurological symptom disorder) (dissociative sub-type) present with neurological symptoms that cannot be fully explained physiologically. Patients with factitious disorder consciously simulate illness for psychological purposes rather than practical gain.

Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality with variable disease expression. Many patients manifest peri- or neonatally with a mortality rate of 30–50%, whereas others survive to adulthood with only minor clinical features. ARPKD is typically caused by mutations in the PKHD1 gene that encodes a 4074-amino acid type 1 single-pass transmembrane protein called fibrocystin or polyductin. Fibrocystin/polyductin is among other cystoproteins expressed in primary cilia, basal bodies, and centrosomes, but its exact function has still not been fully unravelled. Mutations were found to be scattered throughout the gene with many of them being private to single families. Correlations have been drawn for the type of mutation rather than for the site of the individual mutation. Virtually all patients carrying two truncating mutations display a severe phenotype with peri- or neonatal demise while surviving patients bear at least one hypomorphic missense mutation. However, about 20–30% of all sibships exhibit major intrafamilial phenotypic variability and it becomes increasingly obvious that ARPKD is clinically and genetically much more heterogeneous and complex than previously thought.

Cardiovascular disease is a leading cause of mortality. Hypertension is one of the major risk factors for cardiovascular disease. Classically, hypertension is subdivided according to the aetiology into primary and secondary hypertension. Ischaemic heart disease constitutes a major concern for perioperative morbidity and mortality. Therefore important efforts are directed towards the identification of the patient at risk for perioperative cardiac complications and towards optimization of the cardiac status before intervention. Cardiac rhythm disturbances fall into two general classes: bradyarrhythmias and tachyarrhythmias. While single isolated extra or skipped heart beats are usually harmless, serious heart rhythm disturbances are caused by an underlying heart disease. Valvular heart disease refers to any disease process involving any valve of the heart. Valvular heart disease may be as a result of a stenosis or an insufficiency of the valve, or both. It is characterized by pressure or volume overload to the atria and the ventricles (or both). It is this overload that will be responsible for the symptomatology of the disease. As a result of significant advances in prenatal diagnosis, cardiac surgery, interventional cardiology, and perioperative medicine, about 90% of infants with congenital heart disease are currently expected to reach adulthood. Management of these patients requires insight into (1) the primary cardiac lesion, (2) the type of cardiac surgical or interventional procedure(s) performed, (3) the presence of residual defects or sequelae, (4) the current physical status (i.e. balanced vs unbalanced), (5) the effects of surgery or pregnancy on their pathophysiological condition, and (6) the presence of comorbidity.

Chapter 8 discusses the promotion of women's psychosomatic health by prevention or early treatment of cancer and obesity. Health providers have to consider the biological, psychological, social, and cultural factors that alter psychosomatic interactions to generate these health conditions. Primary/secondary prevention need more emphasis than tertiary prevention or treatment. The transition of normal cervical epithelium to cervical-intraepithelial neoplasia (CIN), and the progression of CIN 2/3 to cancer is preventable. Two-thirds of patients with CIN have HPV infection. Cervical screening allows astute clinical decision-making as CIN could revert back to normal epithelium. Colposcopically-directed early treatment of CIN 2/3 is a secondary preventive measure. Cervical screening has reduced cervical cancer in the West but organised screening is unavailable in low-middle income countries where cervical cancer is common. Sociocultural practices promote unsafe sex, such as when minors in these countries acquire HPV infection through marriage to an older infected male or when women/adolescents are war victims. Inebriated party-goers may acquire HPV infection through unsafe sex. HPV vaccines protect against 70% of carcinogenic HPV strains only. Serious adverse effects after vaccination are uncommon. Barrier contraception prevents HPV, and other sexually transmitted diseases. Obesity increases the risk of endometrial cancer. Type-1 endometrial cancer relates to obesity and starts at a younger age, unlike type-2. Obesity also affects fertility. Transgenerational changes in the fetus of the obese gravida can promote obese offspring. Bariatric surgery for obesity is however expensive, with a potential for complications. WHO directives thus advise on prevention of obesity, and the overweight habitus. Primary prevention of obesity through lifestyle changes should start in childhood.

Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by recurrent arterial or venous thrombosis and/or pregnancy loss, accompanied by laboratory evidence of antiphospholipid antibodies (aPL), namely anticardiolipin antibodies (aCL), lupus anticoagulant (LA), and antibodies directed against beta-2 glycoprotein 1 (β‎‎‎2GP1). APS may occur as a ‘primary’ form, ‘antiphospholipid syndrome,’ without any known systemic disease or may occur in the context of systemic lupus erythematosus (SLE), ‘SLE-related APS’. APS may affect any organ system and displays a broad spectrum of thrombotic manifestations, ranging from isolated lower extremity deep vein thrombosis to the ‘thrombotic storm’ observed in catastrophic antiphospholipid syndrome. Less frequently, patients present with non-thrombotic manifestations (e.g. thrombocytopaenia, livedo reticularis, pulmonary hypertension, valvular heart disease, chorea, and recurrent fetal loss).The kidney is a major target organ in both primary and SLE-related APS. Renal involvement is typically caused by thrombosis occurring at any location within the renal vasculature, leading to diverse effects, depending on the size, type, and site of vessel involved. The renal manifestations of APS include renal artery stenosis and/or renovascular hypertension, renal infarction, APS nephropathy (APSN), renal vein thrombosis, allograft vasculopathy and vascular thrombosis, and thrombosis of dialysis access.Typical vascular lesions of APSN may be acute, the so-called thrombotic microangiopathy, and/or chronic, such as arteriosclerosis, fibrous intimal hyperplasia, tubular thyroidization, and focal cortical atrophy. The spectrum of renal lesions includes non-thrombotic conditions, such as glomerulonephritis. Furthermore, renal manifestations of APS may coexist with other pathologies, especially proliferative lupus nephritis.Early diagnosis of APS requires a high degree of clinical suspicion. The diagnosis requires one clinical (vascular thrombosis or pregnancy morbidity) and at least one laboratory (LA, aCL, and/or anti-β‎‎‎2GP1) criterion, positive on repeated testing.The aetiology of APS is not known. Although aPL are diagnostic of, and pathogenic in, APS, a ‘second hit’ (usually an inflammatory event) may trigger thrombosis in APS. The pathogenesis of the thrombotic tendency in APS remains to be elucidated, but may involve a combination of autoantibody-mediated dysregulation of coagulation, platelet activation, and endothelial injury.Treatment of APS remains centred on anticoagulation; however, it has also included the use of corticosteroids and other immunosuppressive therapy. The prognosis of patients with primary APS is variable and unpredictable. The presence of APS increases morbidity (renal and cerebral) and mortality of SLE patients.