Intrafamilial Variability of ADPKD

Matthew B. Lanktree,Elsa Guiard,Weili Li,Pedram Akbari,Amirreza Haghighi,Ioan-Andrei Iliuta, Belili Shi,Chen Chen,Ning He,Xuewen Song,Peter J. Margetts,Alistair J. Ingram,Korosh Khalili,Andrew D. Paterson,York Pei

Kidney International Reports（2019）

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摘要

Extreme kidney disease discordance is present in at least 12% of families with ADPKD, regardless of the underlying mutated gene or mutation class. Delineating genetic and environmental modifiers underlying the observed intrafamilial ADPKD variability will provide novel insights into the mechanisms of progression in ADPKD.

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关键词

polycystic kidney disease,ADPKD,genetics

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