Article
Evolving role of genetic testing for the clinical management of autosomal dominant polycystic kidney disease.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Sept 2019
Lanktree Matthew B, Iliuta Ioan-Andrei, Haghighi Amirreza, Song Xuewen, Pei York
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by mutations of two genes, PKD1 and PKD2. In the presence of a positive family history of ADPKD, genetic testing is currently seldom indicated as the diagnosis is mostly based on imaging studies using well-established criteria. Moreover, PKD1 mutation screening is technically challenging due to its large size, complexity (i.e. presence of...
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