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Ciliopathies constitute a group of disorders characterized by cilia abnormalities and an extremely heterogeneous clinical presentation. The liver and kidneys are the most commonly affected organs and the term hepatorenal fibrocystic disorders is used to describe ciliopathies with combined liver and kidney involvement. Liver disorders in ciliopathies can be grouped into three categories: congenital...
Autosomal dominant polycystic kidney disease is a genetic disorder which results in the
development of multiple cysts in the kidneys and other parenchymal organs. The two
genes in which mutations are known to cause autosomal dominant polycystic kidney
disease are PKD1 and PKD2. Approximately 50% of individuals with autosomal dominant
polycystic kidney disease will develop end-stage renal disease...
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