The importance of quantifying genetic heterogeneity in ADPKD

ADPKD is the most common hereditary renal disease. New data provided in this edition of Kidney International suggests that mutations in the PKD1 and PKD2 genes may account for all cases of ADPKD. Further improvements in mutation detection methodologies are needed to determine the true relative frequ...

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Detalles Bibliográficos
Autor principal: Chapman, Arlene B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3914150/
https://www.ncbi.nlm.nih.gov/pubmed/24487363
http://dx.doi.org/10.1038/ki.2013.371
Descripción
Sumario:ADPKD is the most common hereditary renal disease. New data provided in this edition of Kidney International suggests that mutations in the PKD1 and PKD2 genes may account for all cases of ADPKD. Further improvements in mutation detection methodologies are needed to determine the true relative frequency of PKD1 vs. PKD2 as well as to establish the value of mutation type and location to predict disease severity in this disorder.

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