Pathology vs. molecular genetics: (re)defining the spectrum of Alport syndrome (Commentary)

Malone et al. performed next-generation sequencing on 70 families with focal segmental glomerulosclerosis (FSGS) and discovered that 10% had variants in surprising ‘old’ genes, COL4A3 and COL4A4, which are involved in Alport syndrome and thin basement membrane nephropathy. These data show that a subset of renal manifestations associated with COL4A3 orCOL4A4 variants cannot be distinguished from FSGS by clinical data or histopathology. Thus, a diagnosis of FSGS may sometimes fall within the spectrum of Alport syndrome.

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Author: Jeffrey H Miner

Reference: Kidney Int 86: 1081-1083; doi:10.1038/ki.2014.326

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Last modified on Thursday, 02 July 2015 15:59

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