Polycystic Kidney Disease
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited cystic kidney disorder causing enlarged kidneys, hypertension and progressive CKD, with important renal, hepatic, vascular, reproductive and family implications.
Definition
Autosomal dominant polycystic kidney disease is an inherited disorder in which multiple renal cysts develop and enlarge over time, causing hypertension, progressive CKD and kidney failure in some people, with variable hepatic, vascular and other extrarenal manifestations.
First principles
A germline ciliary disorder creates a progressive cyst burden
Pathogenic variants affecting polycystin signalling disrupt tubular-cell mechanosensation, intracellular calcium and epithelial growth. Focal tubular segments enlarge into cysts, which continue to expand and compress surrounding parenchyma. The structural burden can increase for years before serum creatinine shows a major change.
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