Polycystic kidney disease (PKD) is one of the main causes of terminal renal disease. The forms occurring in adults generally follow an autosomal dominant inheritance pattern (ADPKD), while autosomal recessive forms (ARPKD) are rare and more severe, and usually occur during the perinatal period or early infancy. PKD is characterized by nephromegaly and by the presence of multiple renal cysts, which, in the case of ADPKD, can develop in all areas of the kidney, although they usually affect the distal portions of the nephron and collecting duct system. Mutations in the genes encoding polycystin-1 (PKD1) and polycystin-2 (PKD2) account for approximately 75% and 15% of ADPKD cases, respectively. ADPKD usually manifests with liver fibrosis, nephromegaly, and cysts typically affecting the collecting duct. Both genetic forms usually lead to chronic renal disease with progressive loss of renal function and kidney failure.
The biological nature of the affected gene provides relevant information about the pathophysiology of the disease and is essential for its genetic diagnosis and prognosis.
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