Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis

Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many causes including inherited genetic defects with significant proteinuria being the predominant clinical finding at presentation. Mutations in COL4A3 and COL4A4 are known to cause Alport syndrome, thin basement membrane nephr...

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Bibliographic Details
Published in:Kidney Int
Main Authors: Malone, Andrew F, Phelan, Paul J, Hall, Gentzon, Cetincelik, Umran, Homstad, Alison, Alonso, Andrea, Jiang, Ruiji, Lindsey, Thomas, Wu, Guanghong, Sparks, Matthew A, Smith, Stephen R, Webb, Nicholas J A, Kalra, Philip, Adeyemo, Adebowale, Shaw, Andrey S, Conlon, Peter J, Jennette, J Charles, Howell, David N, Winn, Michelle P, Gbadegesin, Rasheed A
Format: Artigo
Language:Inglês
Published: 2014
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4245465/
https://ncbi.nlm.nih.gov/pubmed/25229338
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ki.2014.305
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