Article
Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on.
Human mutation - 1 Dec 2014
Cornec-Le Gall Emilie, Audrézet Marie-Pierre, Le Meur Yannick, Chen Jian-Min, Férec Claude
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD), the most common inherited kidney disorder, is characterized by the progressive development and expansion of bilateral fluid-filled cysts derived from the renal tubule epithelial cells. Although typically leading to end-stage renal disease in late middle age, ADPKD represents a continuum, from neonates with hugely enlarged cystic kidneys to cases with adequate...
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