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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Dustri-Verlag Dr. Karl Feistle
2015
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| Materias: | |
| 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 |