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...

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Detalles Bibliográficos
Autores principales: Wuttke, Matthias, Seidl, Maximilian, Malinoc, Angelica, Prischl, Friedrich C., Kuehn, E. Wolfgang, Walz, Gerd, Köttgen, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
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Contents
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

Internet

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

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