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Rapid progression to end-stage renal disease in a child with a sporadic ACTN4 mutation

Mutations of ACTN4 cause an autosomal dominant form of focal segmental glomerulosclerosis (FSGS). Presentation usually occurs in the teenage years or later with symptoms of mild proteinuria and slowly progressive renal dysfunction leading to end-stage renal disease (ESRD). We report a 5-year-old fem...

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Bibliografiske detaljer
Udgivet i:Clin Nephrol Case Stud
Main Authors: Kakajiwala, Aadil K., Meyers, Kevin E., Bhatti, Tricia, Kaplan, Bernard S.
Format: Artigo
Sprog:Inglês
Udgivet: Dustri-Verlag Dr. Karl Feistle 2015
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5438006/
https://ncbi.nlm.nih.gov/pubmed/29043128
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5414/CNCS108616
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