Polycystic Kidney Disease
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- Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary disorder resulting in cystic enlargement of the kidney and occurs in approximately 1 in 1000 persons. Approximately 20% of patients with ADPKD do not have a positive family history.
- There are two well-described mutations in the polycystin genes, PKD1 and PKD2. PKD1 is the most common and present in approximately 85% of ADPKD. PKD2 is associated with a later onset of disease.
- The mechanism by which cysts form is unclear. The polycystin gene products primarily localize to the cilia of the tubular apical membrane. Disordered regulation of cell division and planar cell polarity may lead to overgrowth of the tubular segment, eventually pinching off from the rest of the collecting system. In abnormal cells, cyclic AMP imparts a proliferative phenotype as well as inducing chloride extrusion into the cyst lumen. Cyst formation affects only a relatively small percentage of tubules, suggesting a “two-hit” hypothesis where a sporadic mutation of the wild-type allele results in local cystogenesis.