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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Detalles Bibliográficos
Autores principales: Kakajiwala, Aadil K., Meyers, Kevin E., Bhatti, Tricia, Kaplan, Bernard S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dustri-Verlag Dr. Karl Feistle 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5438006/
https://www.ncbi.nlm.nih.gov/pubmed/29043128
http://dx.doi.org/10.5414/CNCS108616

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5438006/
https://www.ncbi.nlm.nih.gov/pubmed/29043128
http://dx.doi.org/10.5414/CNCS108616

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