PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis.

Emilie Cornec-Le Gall 1, 2 Marie-Pierre Audrézet 1 Eric Renaudineau 3 Maryvonne Hourmant 4 Christophe Charasse 5 Eric Michez Thierry Frouget 6 Cécile Vigneau 7 Jacques Dantal Pascale Siohan 8 Hélène Longuet 9 Philippe Gatault 10 Laure Ecotière Frank Bridoux 11 Lise Mandart 12 Catherine Hanrotel-Saliou 13 Corina Stanescu Pascale Depraetre 14 Sophie Gie Michiel Massad Aude Kersalé Guillaume Séret Jean-François Augusto 15 Philippe Saliou 16 Sandrine Maestri Jian-Min Chen Peter C Harris 17, 18 Claude Férec 1, 19 Yannick Le Meur 20, 2
Abstract : 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.
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Submitted on : Friday, April 7, 2017 - 12:47:34 PM
Last modification on : Thursday, October 17, 2019 - 12:36:36 PM

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Emilie Cornec-Le Gall, Marie-Pierre Audrézet, Eric Renaudineau, Maryvonne Hourmant, Christophe Charasse, et al.. PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis.. American Journal of Kidney Diseases, Elsevier, 2017, 70 (4), pp.476-485. ⟨10.1053/j.ajkd.2017.01.046⟩. ⟨hal-01503616⟩

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