| [ Summary ] |
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary disease, in which cysts develop from renal tubules and enlarge independently, in a process that causes renal failure among 50% of affected individuals. Mutation of either PKD 1 or PKD 2 is associated with ADPKD. PKD 1 and PKD 2 produce polycystin-1 and -2 respectively. Polycystin proteins co-assemble at the primary cilium, located on the apical membrane of renal tubular cells and function as a calcium-permeable channel regulated by urine flow. Although the mechanism of cyst formation is still under investigation, cAMP seems to play an important role in cyst enlargement by stimulating cell proliferation as well as cyst fluid secretion. Cyst formation makes the kidney and the liver enlarge and causes many symptoms, including abdominal pain, stone formation, and infection. Extrarenal symptoms are associated with varieties of cardiovascular abnormalities, such as hypertension, valvar abnormalities, intracranial aneurysms and dissecting aneurysms, causing hemorrhage. Recently, new therapies are being developed based on the pathophysiology of the disease, enabling us to inhibit cyst formation in PKD model animals. These therapies may be applied to ADPKD patients, who are currently treated by traditional therapies for chronic renal failure. |