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

@inproceedings{Malone2014RareHC,
  title={Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis},
  author={Andrew F. Malone and Paul J Phelan and Gentzon Hall and Umran Cetinçelik and Alison Homstad and Andrea Alonso and Ruiji Jiang and Thomas F Lindsey and Guanghong Wu and Matthew A Sparks and Stephen R Smith and Nicholas Webb and Philip A Kalra and Adebowale A Adeyemo and Andrey S Shaw and Peter J Conlon and J. Charles Jennette and David N. Howell and Michelle P. Winn and Rasheed A Gbadegesin},
  booktitle={Kidney international},
  year={2014}
}
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 (AS), thin basement membrane nephropathy, and to result in pathognomonic glomerular basement membrane (GBM) findings. Secondary FSGS is known to develop in classic AS at later stages of the disease. Here, we present seven… CONTINUE READING
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