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1

M. O. Ryznychuk and V. P. Pishak. "Clinical characteristic and genetic polymorphism of hereditary kidney disease. Communication 1." Bukovinian Medical Herald 17, no. 1 (65) (2013): 169–73. http://dx.doi.org/10.24061/2413-0737.xvii.1.65.2013.40.

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WASIELEWSKA, MAŁGORZATA, IWONA SZATKOWSKA, EWA CZERNIAWSKA–PIĄTKOWSKA, and DANIEL ZABORSKI. "Molecular background of hereditary nephropathies in spaniel dogs." Medycyna Weterynaryjna 75, no. 12 (2019): 6330–2019. http://dx.doi.org/10.21521/mw.6330.

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The molecular background of hereditary nephropathies in English Cocker Spaniels and Springer Spaniels remained unclear until the beginning of the 21st century. It was only the discovery of an association between these diseases and Alport syndrome in humans that made it possible to identify the genes potentially responsible for nephropathies in dogs. Eventually, two mutations were identified in the COL4A4 gene coding for the alpha chains of collagen IV, the main component of the glomerular basement membrane (GBM). This review presents the molecular mechanism resulting from the aforementioned mu
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Arant, Billy S. "Prevention of hereditary nephropathies by antenatal interventions." Pediatric Nephrology 1, no. 3 (1987): 553–60. http://dx.doi.org/10.1007/bf00849269.

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Dufier, J. L., D. Orssaud, P. Dhermy, M. C. Gubler, M. F. Gagnadoux, and M. Broyer. "Ocular changes in some progressive hereditary nephropathies." Pediatric Nephrology 1, no. 3 (1987): 525–30. http://dx.doi.org/10.1007/bf00849264.

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Fuentes Milián, Yangel, Danyer Daniel Tamayo Ribeaux, Anabel Cepero Rodríguez, and Bárbara Martínez Pérez. "Screening and diagnostic algorithm of hereditary metabolic nephropathies in newborns." Multidisciplinar (Montevideo) 2 (January 1, 2024): 67. http://dx.doi.org/10.62486/agmu202467.

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Introduction: inborn errors of metabolism expressed as hereditary nephropathies, entail various biochemical abnormalities that facilitate their screening and diagnosis in the newborn.Objective: to offer a useful, ideal, simple and reliable screening alternative as a tool for the diagnosis of hereditary metabolic nephropathies in newborns.Methods: an observational and cross-sectional study was carried out during the period September 2021-February 2023, at the Abel Santamaría Cuadrado General Teaching Hospital, Pinar del Río province, Cuba. The universe consisted of 90 patients and a representat
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Zerres, Klaus, and Sabine Rudnik-Schöneborn. "Current Status of DNA Diagnosis for Hereditary Nephropathies." Kidney and Blood Pressure Research 19, no. 3-4 (1996): 209–14. http://dx.doi.org/10.1159/000174076.

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Niaudet, Patrick. "Living donor kidney transplantation in patients with hereditary nephropathies." Nature Reviews Nephrology 6, no. 12 (2010): 736–43. http://dx.doi.org/10.1038/nrneph.2010.122.

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Picut, C. A., and R. M. Lewis. "Comparative pathology of canine hereditary nephropathies: An interpretive review." Veterinary Research Communications 11, no. 6 (1987): 561–81. http://dx.doi.org/10.1007/bf00396371.

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Yanus, G. A., A. G. Iyevleva, E. N. Suspitsin, et al. "Hereditary predisposition to kidney cancer: cancer syndromes, multisystemic disorders, and nephropathies." Sechenov Medical Journal 14, no. 2 (2023): 5–20. http://dx.doi.org/10.47093/2218-7332.2023.14.2.5-20.

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Kidney cancer (KC) is a common disease characterized by extreme heterogeneity. There are nine known monogenic diseases associated with a significantly elevated KC risk: von Hippel-Lindau disease, MET-associated papillary renal cancer, familial multiple leiomyomatosis and renal cell cancer, SDHx-associated familial pheochromocytoma/ paraganglioma, Birt-Hogg-Dube syndrome, tuberous sclerosis, Cowden syndrome, BAP1- and MITF-associated melanoma-KC predisposition. These syndromes differ in the degree of cancer risk, the quantity, growth and progression rates of associated precancerous lesions, the
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Minkus, G., W. Breuer, R. Wanke, et al. "Familial Nephropathy in Bernese Mountain Dogs." Veterinary Pathology 31, no. 4 (1994): 421–28. http://dx.doi.org/10.1177/030098589403100403.

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Between January 1988 and March 1992 nephropathies were frequently diagnosed in Bernese Mountain Dogs. During this period, 20 animals (16 females, four males), ages 2–5 years (average age at time of diagnosis = 3.3 years) presented with clinically renal insufficiency. Morphologic diagnosis of the renal lesions was identical in all cases, i.e., membranoproliferative glomerulonephritis (MPGN) with concomitant interstitial nephritis. Deposits of immunoglobulin-M (IgM) and of the third complement component were regularly demonstrated immunohistochemically in the glomeruli; deposits of immunoglobuli
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Carriazo, Sol M., Maria Dolores Sanchez-Nino, Laura J. Castañeda Infante, and Alberto Ortiz. "Is There a Contribution of Genes Involved in Hereditary Nephropathies to AKI?" Journal of the American Society of Nephrology 31, no. 10S (2020): 523–24. http://dx.doi.org/10.1681/asn.20203110s1523d.

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Riedhammer, Korbinian M., Matthias C. Braunisch, Roman Günthner, et al. "Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies." American Journal of Kidney Diseases 76, no. 4 (2020): 460–70. http://dx.doi.org/10.1053/j.ajkd.2019.12.008.

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Dimitrijevic, Jovan, Vera Todorovic, Anastasija Aleksic, et al. "Alport’s syndrome and benign familial haematuria: Light and electron microscopic studies of the kidney." Srpski arhiv za celokupno lekarstvo 136, Suppl. 4 (2008): 275–81. http://dx.doi.org/10.2298/sarh08s4275d.

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INTRODUCTION. Hereditary nephropathy is clinically characterized by the familial occurrence in successive generations of progressive haematuric nephritis and neural hearing loss. Hereditary nephropathy of Alport?s syndrome (AS) and benign familial (recurrent) haematuria (BFH) are morphologically characterized by specific and diagnostically important thickening and splitting of lamina densa of the glomerular basement membranes. Those lesions can be recognized only by electron microscopy. Hereditary nephritis is usually present clinically with haematuria, and new mutations without a family histo
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Sementilli, Angelo, Luiz Antonio Moura, and Marcello Fabiano Franco. "The role of electron microscopy for the diagnosis of glomerulopathies." Sao Paulo Medical Journal 122, no. 3 (2004): 104–9. http://dx.doi.org/10.1590/s1516-31802004000300006.

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CONTEXT: Electron microscopy has been used for the morphological diagnosis of glomerular diseases for more than three decades and its value has been widely emphasized. However, recent reports have analyzed the routine use of electron microscopy critically. Its use in other areas of diagnosis such as tumor diseases has declined considerably; in addition, in view of the unavoidable financial pressure for the reduction of costs due to investigations and diagnostic routines, the selection of cases for electron microscopy has been quite rigorous. OBJECTIVE: To identify the glomerular diseases that
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15

Fatima, Rana, Rakesh Kumar, Amitesh Goud, et al. "Biopsy Proven Kidney Disease From A Rural Tertiary Care Centre — A Social And Epidemiological Perspective." Perspectives in Medical Research 9, no. 3 (2022): 68–71. http://dx.doi.org/10.47799/pimr.0903.16.

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Abstract The prevalence of chronic kidney disease (CKD) is rising in rural areas. Screening of high risk cases, early detection and referral by the physicians reduces the prevalence of kidney disease in the population. Hereditary disorders, Glomerular diseases, Obstructive nephropathies are common causes in CKD in rural areas. Kidney biopsy is an essential diagnostic tool in to diagnose glomerular diseases. This prospective study done at tertiary care teaching hospital between 2017 and 2020 to understand the profile of glomerular diseases in rural area. Forty patients were included in the Stud
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16

Hopfer, H., and M. J. Mihatsch. "Hereditäre Nephropathien." Der Nephrologe 5, no. 6 (2010): 508–16. http://dx.doi.org/10.1007/s11560-009-0381-x.

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Vyalkova, Albina A., Svetlana A. Chesnokova, Oksana O. Ustinova та Larisa A. Gaikova. "Сhronic kidney disease in children: principles of ambulatory management". Russian Pediatric Journal 24, № 2 (2021): 122–29. http://dx.doi.org/10.46563/1560-9561-2021-24-2-122-129.

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Introduction. The term «chronic kidney disease» (CKD) is used to define the outcomes of various forms of chronic progressive kidney disease, characterized by kidney damage, or a decrease in their function for three months or more, regardless of the nosological diagnosis. The aim of the work was to determine the frequency, structure, and clinical and paraclinical features of CKD in children to substantiate the principles of its management in primary health care. Results. In CKD patients, tubulointerstitial renal lesions were established to prevail (80%). Associated with congenital malformations
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Sreelatha, Souparnika, Benedicta D'souza, and Vivian D'souza. "Matrix metalloproteinases in nephrotic syndrome; a vital but obscure field of research." Journal of Nephropathology 8, no. 3 (2019): 33. http://dx.doi.org/10.15171/jnp.2019.33.

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Context: Matrix metalloproteinases (MMPs) are involved in the remodelling of the glomerular basement membrane (GBM) by tightly regulating the metabolism of extracellular matrix (ECM) of the GBM. Evidence Acquisitions: Directory of Open Access Journals (DOAJ), Google Scholar, PubMed, EBSCO, Scopus and Web of Science have been searched. Results: Gelatinases (MMP-2 and MMP-9) are mainly found involved in the remodelling of GBM and therefore this review focuses on these two MMPs and their action in nephrotic syndrome (NS), which is a protein losing enteropathy occurring due to the loss of integrit
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Lhotta, K. "Pathogenese und Klinik hereditarer Nephropathien." Acta Medica Austriaca 28, no. 3 (2001): 78–80. http://dx.doi.org/10.1046/j.1563-2571.2001.01018.x.

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Severova-Andreevska, Galina, Ladislava Grcevska, Gordana Petrushevska, et al. "The Spectrum of Histopathological Changes in the Renal Allograft - a 12 Months Protocol Biopsy Study." Open Access Macedonian Journal of Medical Sciences 6, no. 4 (2018): 606–12. http://dx.doi.org/10.3889/oamjms.2018.162.

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INTRODUCTION: Renal transplantation became a routine and successful medical treatment for Chronic Kidney Disease in the last 30 years all over the world. Introduction of Luminex based Single Antigen Beads (SAB) and recent BANFF consensus of histopathological phenotypes of different forms of rejection enables more precise diagnosis and changes the therapeutic approach. The graft biopsies, protocol or cause, indicated, remain a golden diagnostic tool for clinical follow up of kidney transplant recipients (KTR).AIM: The study aimed to analyse the histopathological changes in renal grafts 12 month
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Moiseev, Sergey V., and Eugene M. Shilov. "Kidney involvement in rare hereditary diseases." Terapevticheskii arkhiv 96, no. 6 (2024): 559–64. http://dx.doi.org/10.26442/00403660.2024.06.202722.

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Various rare inherited disorders can be associated with kidney involvement, including glomerulopathies, tubulopathies, multiple cysts, congenital anomalies of the kidneys and urinary tract, urolithiasis, malignant and benign tumors. Genetic nephropathy should be always considered in children, adolescents and young patients with the kidneys or urinary tract disorders and/or patients with positive family anamnesis. Extrarenal manifestations can be a valuable clue for diagnosis of certain hereditary diseases, e.g. neurosensory deafness in Alport syndrome or photofobia in nephropathic cystinosis.
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Persey, Malcolm R., David R. Booth, Susanne E. Booth, et al. "Hereditary nephropathic systemic amyloidosis caused by a novel variant apolipoprotein A-I." Kidney International 53, no. 2 (1998): 276–81. http://dx.doi.org/10.1046/j.1523-1755.1998.00770.x.

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Janssens, Virginie, Héloïse P. Gaide Chevronnay, Sandrine Marie, et al. "Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression." Journal of the American Society of Nephrology 30, no. 11 (2019): 2177–90. http://dx.doi.org/10.1681/asn.2019040371.

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BackgroundDeletions or inactivating mutations of the cystinosin gene CTNS lead to cystine accumulation and crystals at acidic pH in patients with nephropathic cystinosis, a rare lysosomal storage disease and the main cause of hereditary renal Fanconi syndrome. Early use of oral cysteamine to prevent cystine accumulation slows progression of nephropathic cystinosis but it is a demanding treatment and not a cure. The source of cystine accumulating in kidney proximal tubular cells and cystine’s role in disease progression are unknown.MethodsTo investigate whether receptor-mediated endocytosis by
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Veys, Koenraad R. P., Mohamed A. Elmonem, Maria Van Dyck, et al. "Chitotriosidase as a Novel Biomarker for Therapeutic Monitoring of Nephropathic Cystinosis." Journal of the American Society of Nephrology 31, no. 5 (2020): 1092–106. http://dx.doi.org/10.1681/asn.2019080774.

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BackgroundNephropathic cystinosis, a hereditary lysosomal storage disorder caused by dysfunction of the lysosomal cotransporter cystinosin, leads to cystine accumulation and cellular damage in various organs, particularly in the kidney. Close therapeutic monitoring of cysteamine, the only available disease-modifying treatment, is recommended. White blood cell cystine concentration is the current gold standard for therapeutic monitoring, but the assay is technically demanding and is available only on a limited basis. Because macrophage-mediated inflammation plays an important role in the pathog
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Moiseev, S., N. Chebotareva, N. Bulanov, and E. M. Shilov. "Rare inherited diseases with kidney involvement: approaches to diagnosis and treatment." Clinical pharmacology and therapy 38, no. 3 (2023): 6–18. http://dx.doi.org/10.32756/0869-5490-2023-3-6-18.

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Many rare inherited disorders can be associated with the various types of kidney involvement, including glomerular disease, tubulopathies, congenital anomalies of the kidneys and urinary tract, urolithiasis, multiple cysts, malignant and benign tumors. Hereditary nephropathy should be always considered in children, adolescents and young patients with the kdineys or urinary tract disorders and/or patients with positive family anamnesis although certain genetic diseases can manifest in adult or even in the elderly whereas proband family members frequently show no signs of the disease. Extrarenal
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Alsultan, Mohammad Khaled, Zeina Nizar Bdeir, Qussai Hassan, and Tahani Ali. "Successful Kidney Transplant for Nephropathic Cystinosis in a Patient with Von Willebrand Disease Type III: The First Case Report." Case Reports in Nephrology and Dialysis 11, no. 3 (2021): 362–66. http://dx.doi.org/10.1159/000520794.

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Nephropathic cystinosis (NC) is a rare autosomal recessive disease, which causes cysteine-crystals accumulation with progression to end-stage renal disease (ESRD). Von willebrand disease (VWD) type III is a rare subtype of von willebrand factor (VWF) abnormality, which is characterized by severe reduction of VWF and factor VIII activity. A 16-year-old patient with NC and VWD type III presented with uremic symptoms due to ESRD. Dialysis access was inserted and followed by hemodialysis (HD) for 4 months with a proper infusion of blood products. While renal transplant remains the treatment of cho
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Tavares, Isabel, Luísa Lobato, Carlos Matos, et al. "Homozygosity for the E526V Mutation in Fibrinogen A Alpha-Chain Amyloidosis: The First Report." Case Reports in Nephrology 2015 (2015): 1–6. http://dx.doi.org/10.1155/2015/919763.

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Systemic hereditary amyloidoses are autosomal dominant diseases associated with mutations in genes encoding ten different proteins. The clinical phenotype has implications on therapeutic approach, but it is commonly variable and largely dependent on the type of mutation. Except for rare cases involving gelsolin or transthyretin, patients are heterozygous for the amyloidogenic variants. Here we describe the first patient identified worldwide as homozygous for a nephropathic amyloidosis, involving the fibrinogen variant associated with the fibrinogen alpha-chain E526V (p.Glu545Val) mutation. In
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Génevaux, Franziska, Ajla Barucija, Kilian Hierdeis, Louisa Hock, and Stefan Eber. "Hämatologie in der pädiatrischen Praxis." Kinder- und Jugendmedizin 24, no. 01 (2024): 39–49. http://dx.doi.org/10.1055/a-2220-1397.

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ZUSAMMENFASSUNGAnämien sind heterogen und vielfältig, daher werden besonders seltene Anämieformen häufig unterdiagnostiziert. Eine ausführliche Diagnostik im klinischen Alltag ist deshalb notwendig. Zum Ausschluss häufiger Anämieursachen sollten immer eine eingehende klinische Anamnese und Diagnostik mit der Suche nach Infektionen oder Tumoren, Hämolysezeichen und Coombs-Test erfolgen. Als Differenzialdiagnose bei verändertem Blutbild muss auch an ein malignes Geschehen gedacht werden. Nur durch das Ausschließen zahlreicher Differenzialdiagnosen lassen sich seltene Anämien detektieren und adäq
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Carriazo, Sol, Maria Dolores Sanchez-Nino, Maria Vanessa Perez Gomez, et al. "P0054ACQUIRED DIFFERENTIAL EXPRESSION IN ACUTE KIDNEY INJURY OF GENES RESPONSIBLE FOR HEREDITARY NEPHROPATHIES." Nephrology Dialysis Transplantation 35, Supplement_3 (2020). http://dx.doi.org/10.1093/ndt/gfaa142.p0054.

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Abstract Background and Aims Gene sequencing is becoming an important diagnostic tool in a great number of medical specialties. Despite its interpretation is still a challenge, allows the identification of genes related to hereditary diseases and bild a base for the study of acquired nephropathies. We hypothesize that those genes responsible for hereditary nehpropathies could contribute to the pathogenesis of acquired nephropathies. Method In a murine model of acute kidney disease induced by folic acid, we analyzed the kidney transcriptomic after 24 hours of damage. In this database we evaluat
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Stippel, Michaela, Korbinian M. Riedhammer, Bärbel Lange-Sperandio, et al. "Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing." Frontiers in Genetics 12 (May 26, 2021). http://dx.doi.org/10.3389/fgene.2021.642849.

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Background: Chronic kidney disease (CKD) in childhood and adolescence occurs with a median incidence of 9 per million of the age-related population. Over 70% of CKD cases under the age of 25 years can be attributed to a hereditary kidney disease. Among these are hereditary podocytopathies, ciliopathies and (monogenic) congenital anomalies of the kidney and urinary tract (CAKUT). These disease entities can present with a vast variety of extrarenal manifestations. So far, skeletal anomalies (SA) have been infrequently described as extrarenal manifestation in these entities. The aim of this study
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Corsello, Antonio, Chiara Maria Trovato, Valeria Dipasquale, et al. "Malnutrition management in children with chronic kidney disease." Pediatric Nephrology, July 2, 2024. http://dx.doi.org/10.1007/s00467-024-06436-z.

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AbstractChronic kidney disease (CKD) encompasses diverse conditions such as congenital anomalies, glomerulonephritis, and hereditary nephropathies, necessitating individualized nutritional interventions. Early detection is pivotal due to the heightened risk of adverse outcomes, including compromised growth and increased healthcare costs. The nutritional assessment in pediatric CKD employs a comprehensive, multidisciplinary approach, considering disease-specific factors, growth metrics, and dietary habits. The prevalence of malnutrition, as identified through diverse tools and guidelines, under
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Zellner, Alicia, Christian Schaaf, Maike Buettner-Herold, et al. "#4876 CLASSIFICATION OF BIOPSY FINDINGS IN INDIVIDUALS WITH NEPHROPATHIES USING MOLECULAR GENETIC TESTING AND PROTEOMICS." Nephrology Dialysis Transplantation 38, Supplement_1 (2023). http://dx.doi.org/10.1093/ndt/gfad063c_4876.

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Abstract Background and Aims In approximately 10% of adults with chronic kidney disease, a hereditary cause can be identified. Important representatives are Alport syndrome and inherited podocytopathies, which often show the histological picture of focal segmental glomerulosclerosis (FSGS). FSGS is a histological finding of various etiologies (primary, hereditary, secondary). Especially in suspected glomerular kidney disease, kidney biopsy is the diagnostic gold standard. The aim of this study was to evaluate a cohort of individuals with genetically confirmed inherited nephropathy and previous
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Monte Neto, José Tiburcio do, and Gianna Mastroianni Kirsztajn. "The role of podocyte injury in the pathogenesis of Fabry disease nephropathy." Brazilian Journal of Nephrology 46, no. 3 (2024). http://dx.doi.org/10.1590/2175-8239-jbn-2024-0035en.

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Abstract Renal involvement is one of the most severe morbidities of Fabry disease (FD), a multisystemic lysosomal storage disease with an X-linked inheritance pattern. It results from pathogenic variants in the GLA gene (Xq22.2), which encodes the production of alpha-galactosidase A (α-Gal), responsible for glycosphingolipid metabolism. Insufficient activity of this lysosomal enzyme generates deposits of unprocessed intermediate substrates, especially globotriaosylceramide (Gb3) and derivatives, triggering cellular injury and subsequently, multiple organ dysfunction, including chronic nephropa
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Khan, Muhammad Ali, Purba Nag, Anca Grivei, et al. "Adenine overload induces ferroptosis in human primary proximal tubular epithelial cells." Cell Death & Disease 13, no. 2 (2022). http://dx.doi.org/10.1038/s41419-022-04527-z.

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AbstractThe pathogenesis of crystal nephropathy involves deposition of intratubular crystals, tubular obstruction and cell death. The deposition of 8-dihydroxyadenine (DHA) crystals within kidney tubules, for instance, is caused by a hereditary deficiency of adenine phosphoribosyl transferase in humans or adenine overload in preclinical models. However, the downstream pathobiological patterns of tubular cell attrition in adenine/DHA-induced nephropathy remain poorly understood. In this study, we investigated: (i) the modes of adenine-induced tubular cell death in an experimental rat model and
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Del Águila García, María del Mar, Antonio M. Poyatos Andújar, Ana Isabel Morales García, Margarita Martínez Atienza, Susana García Linares, and Rafael Jose Esteban de la Rosa. "MO046NGS PANEL PERFORMANCE IN THE DIAGNOSIS OF HEREDITARY RENAL DISEASE IN SOUTHERN SPAIN." Nephrology Dialysis Transplantation 36, Supplement_1 (2021). http://dx.doi.org/10.1093/ndt/gfab080.0018.

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Abstract Background and Aims Hereditary renal disease (HRD) is still underdiagnosed: although we know aspects related to autosomal dominant polycystic kidney disease (ADPKD), we know little about the incidence and prevalence of other entities such as Alport syndrome. Altogether, HRD can represent 15% of individuals undergoing renal replacement therapy (RRT) or could even be higher. The advancement of genetics at the healthcare level let to achieve accurate and early renal diagnoses, as well as the incorporation of genetic counseling to families, all of which will result in better management of
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Tiwari, Vaibhav, Tarun Shikarwar, and A. K. Bhalla. "#2003 Genetic association in patients with chronic kidney disease of unknown etiology: an observational study." Nephrology Dialysis Transplantation 39, Supplement_1 (2024). http://dx.doi.org/10.1093/ndt/gfae069.1218.

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Abstract Background and Aims Chronic kidney disease (CKD), impacting over 850 million people worldwide, is a diverse group of inherited and acquired nephropathies. While only about 10% of adult CKD is hereditary, predominantly due to mutations in genes like PKD1, PKD2, and PKHD1, the etiology often remains unidentified, leading to challenges in management, especially in transplantation and genetic counseling contexts. This study used whole exome sequencing to investigate CKD of unknown origin, aiming to improve diagnostic yields and establish genetic associations. Our objective was to find the
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Thomé, Gustavo Gomes, Talissa Bianchini, Rafael Nazario Bringhenti, Pedro Guilherme Schaefer, Elvino José Guardão Barros, and Francisco Veríssimo Veronese. "The spectrum of biopsy-proven glomerular diseases in a tertiary Hospital in Southern Brazil." BMC Nephrology 22, no. 1 (2021). http://dx.doi.org/10.1186/s12882-021-02603-8.

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Abstract Background The prevalence and distribution of glomerular diseases differ among countries, and the indication to perform a kidney biopsy varies among centres. In this study, we assessed the prevalence of primary and secondary glomerulopathies based on histological diagnoses, and the correlation between glomerulopathies and demographic and clinical data was evaluated. Methods In this study, 1051 kidney biopsies were retrospectively reviewed between 2000 and 2018. Patient demographic, clinical and laboratory data were assessed. The prevalence of primary glomerulonephritis (PG) and second
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Pandey, Prasant Kumar, Peerzada Owais Ahmad, Nomeeta Gupta, and Amit Agarwal. "CLINICAL PROFILE AND OUTCOME OF PEDIATRIC MAINTENANCE HEMODIALYSIS A PROSPECTIVE, OBSERVATIONAL, HOSPITAL BASED STUDY." GLOBAL JOURNAL FOR RESEARCH ANALYSIS, November 15, 2020, 1–9. http://dx.doi.org/10.36106/gjra/5901784.

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Introduction Dialysis forms the cornerstone of therapy for most patients with chronic kidney diseases stage V, End Stage Renal Disease (ESRD) and many patients with Acute Kidney Injury (AKI). Congenital disorders, including congenital anomalies of the kidney and urinary tract (CAKUT) and hereditary nephropathies, are responsible for about two thirds of all cases of CKD in developed countries, while glomerulonephritis in developing countries predominates as cause for CKD. Most paediatric patients continue to have haemodialysis till a source becomes available for renal transplant, some may die w
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Da Costa, José Oliveira, Natália Marchão, Nadiesda Peres, et al. "#2130 Pregnancy in patients with chronic kidney disease stage 3 to 5: what to expect?" Nephrology Dialysis Transplantation 39, Supplement_1 (2024). http://dx.doi.org/10.1093/ndt/gfae069.1430.

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Abstract Background and Aims Chronic Kidney disease (CKD) has long been recognized as a risk factor for adverse pregnancy outcomes. Advanced CKD is also associated with decrease fertility, raising the importance of an early approach of pre- menopausal CKD women to discuss pregnancy planning and avoid long term kidney function deterioration or prematurity sequelae in their child-to-be. Method Retrospective analysis of maternal, obstetric and perinatal outcomes of patients with CKD stage 3 to 5, followed by the Nephro-obstetric clinical team between 2011 until 2023. Results We evaluated 31 gesta
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Jabborov, O. O. "Features of Genetic Polymorphism in Population with Diabetic Nephropathia: Literature Review." Journal of Advances in Medicine and Medical Research, May 8, 2019, 1–7. http://dx.doi.org/10.9734/jammr/2019/v29i930123.

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The increasing prevalence of diabetes mellitus has led to a growing number of chronic complications including diabetic nephropathy (DN). In high prevalence of diabetes mellitus, DN is associated with high morbidity and mortality primarily due to cardiovascular diseases. Genetic factors play a significant role in the pathogenesis of DN and genetically susceptible individuals that can develop after being exposed to environmental parameters. DN is assumed to be a complex, polygenic disease. Genetic predisposition to diabetes is familial, and often with concomitant obesity. A number of detected po
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Souza, Kauê de Melo, Lucas Facco, Amanda Alves Fecury, et al. "Number of cases of type 1 and 2 diabetes diagnosed in Amapá between 2007 and 2012." Revista Científica Multidisciplinar Núcleo do Conhecimento, December 1, 2020, 18–26. http://dx.doi.org/10.32749/nucleodoconhecimento.com.br/health/diabetes-cases.

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Diabetes mellitus is a succession of different types of disorders in metabolism that are characterized by causing a high rate of blood sugar. Because it is a disease with genetic factors type 1 diabetes has as main risk factor heredity, while type 2 diabetes besides these factors, includes obesity, high blood pressure, poor food education and advancing age. This study aims to show the number of cases of type 1 and 2 diabetes diagnosed in Amapá with the variables gender, age group, sedentary lifestyle, overweight, smoking, between 2007 and 2012. The data for the research were taken from the com
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