Article
The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations.
American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Aug 2018
Cornec-Le Gall Emilie, Chebib Fouad T, Madsen Charles D, Senum Sarah R, Heyer Christina M, Lanpher Brendan C, Patterson Marc C, Albright Robert C, Yu Alan S, Torres Vicente E, Harris Peter C
Abstract excerpt
The diagnosis of autosomal dominant polycystic kidney disease (ADPKD) relies on imaging criteria in the setting of a positive familial history. Molecular analysis, seldom used in clinical practice, identifies a causative mutation in >90% of cases in the genes PKD1, PKD2, or rarely GANAB. We report the clinical and genetic dissection of a 7-generation pedigree, resulting in the diagnosis of 2 different cystic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.