Autosomal dominant polycystic kidney disease: an update on epidemiological and molecular aspects
DOI:
https://doi.org/10.11606/issn.2176-7262.v48i4p380-385Palabras clave:
Autosomal dominant polycystic kidney disease. PKD1 gene. PKD2 gene. Polycystin-1. Polycystin-2.Resumen
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 accuracyDescargas
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2015-12-11
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Alves EF, Borelli SD, Tsuneto LT. Autosomal dominant polycystic kidney disease: an update on epidemiological and molecular aspects. Medicina (Ribeirão Preto) [Internet]. 2015 Dec. 11 [cited 2024 May 19];48(4):380-5. Available from: https://revistas.usp.br/rmrp/article/view/108155