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A COL4A5 mutation with glomerular disease and signs of chronic thrombotic microangiopathy
COL4A5 mutations are a known cause of Alport syndrome, which typically manifests with haematuria, hearing loss and ocular symptoms. Here we report on a 16-year-old male patient with a negative family history who presented with proteinuria, progressive renal failure and haemolysis, but without overt...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4655797/ https://www.ncbi.nlm.nih.gov/pubmed/26613025 http://dx.doi.org/10.1093/ckj/sfv091 |