Article
Recent advances in autosomal-dominant polycystic kidney disease.
Internal medicine journal - 1 Aug 2016
Rangan G K, Tchan M C, Tong A, Wong A T Y, Nankivell B J
Abstract excerpt
Autosomal-dominant polycystic kidney disease (ADPKD) is the most common genetic renal disease in adults, affecting one in every 1000 Australians. It is caused by loss-of-function heterozygous mutations in either PKD1 or PKD2 , which encode the proteins, polycystin-1 and polycystin-2 respectively. The disease hallmark is the development of hundreds of microscopic fluid-filled cysts in the kidney during early...
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