Autosomal dominant polycystic kidney disease: an update on epidemiological and molecular aspects
| العنوان: | Autosomal dominant polycystic kidney disease: an update on epidemiological and molecular aspects |
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| المؤلفون: | Sueli Donizete Borelli, Everton Fernando Alves, Luiza T. Tsuneto |
| المصدر: | Medicina, Vol 48, Iss 4 (2015) |
| بيانات النشر: | Universidade de São Paulo, 2015. |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | medicine.medical_specialty, PKD1, business.industry, urogenital system, medicine.medical_treatment, lcsh:R, Autosomal dominant polycystic kidney disease, Renal function, lcsh:Medicine, General Medicine, Disease, Autosomal dominant polycystic kidney disease. PKD1 gene. PKD2 gene. Polycystin-1. Polycystin-2, medicine.disease, Bioinformatics, urologic and male genital diseases, female genital diseases and pregnancy complications, Epidemiology, medicine, Cyst formation, business, Dialysis, Kidney disease |
| الوصف: | Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary cause of chronic kidney disease stage 5 and represents 3% to 10.3% among patients undergoing dialysis in Brazil. The ADPKD is caused by mutations in one of two genes, PKD1 or PKD2 encoding hence the polycystins 1 and 2 involved in cyst formation. The disease is characterized by progressive growth and development of multiple bilateral renal cysts which lead to loss of kidney function. The ADPKD presents several renal and extrarenal clinical manifestations, and comorbidities. Some diagnostic strategies are regarded as first choice for clinical and molecular investigation of the ADPKD. The knowledge of molecular aspects in association with the clinical manifestations presented by the epidemiology of the disease provides better understanding of the mechanisms of cystogenesis and greater diagnostic accuracy |
| اللغة: | Portuguese |
| تدمد: | 2176-7262 0076-6046 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8183d4cb02a569b7d1fdbdf0f09bb5aTest http://www.revistas.usp.br/rmrp/article/view/108155Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....b8183d4cb02a569b7d1fdbdf0f09bb5a |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 21767262 00766046 |
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