Article
PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis.
American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Oct 2017
Cornec-Le Gall Emilie, Audrézet Marie-Pierre, Renaudineau Eric, Hourmant Maryvonne, Charasse Christophe, Michez Eric, Frouget Thierry, Vigneau Cécile, Dantal Jacques, Siohan Pascale, Longuet Hélène, Gatault Philippe, Ecotière Laure, Bridoux Frank, Mandart Lise, Hanrotel-Saliou Catherine, Stanescu Corina, Depraetre Pascale, Gie Sophie, Massad Michiel, Kersalé Aude, Séret Guillaume, Augusto Jean-François, Saliou Philippe, Maestri Sandrine, Chen Jian-Min, Harris Peter C, Férec Claude, Le Meur Yannick
Abstract excerpt
BACKGROUND: PKD2-related autosomal dominant polycystic kidney disease (ADPKD) is widely acknowledged to be of milder severity than PKD1-related disease, but population-based studies depicting the exact burden of the disease are lacking. We aimed to revisit PKD2 prevalence, clinical presentation, mutation spectrum, and prognosis through the Genkyst cohort. STUDY DESIGN: Case series, January 2010 to March 2016....
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