Volume 86, Issue 6, Pages 1081-1083 (December 2014) Pathology vs. molecular genetics: (re)defining the spectrum of Alport syndrome Jeffrey H. Miner Kidney International Volume 86, Issue 6, Pages 1081-1083 (December 2014) DOI: 10.1038/ki.2014.326 Copyright © 2014 International Society of Nephrology Terms and Conditions
Figure 1 The spectrum of Alport syndrome, from benign familial hematuria at one extreme to early-onset end-stage renal disease with hearing and eye defects at the other extreme. Other manifestations of COL4A3, COL4A4, and COL4A5 mutations, which can vary even within a family, fall between the extremes in what are likely overlapping positions. CKD, chronic kidney disease; ESRD, end-stage renal disease; FSGS, focal segmental glomerulosclerosis. Kidney International 2014 86, 1081-1083DOI: (10.1038/ki.2014.326) Copyright © 2014 International Society of Nephrology Terms and Conditions