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focal segmental glomerulosclerosis
Wednesday 12 May 2004
Synopsis
focal areas of mesangial matrix deposition
no increase in cell numbers
Ultrastructure
foot process fusion
Associations
tRNATyr mutations
- homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy (14598342)
WT1 germline mutations
- WT1-associated focal segmental glomerulosclerosis
References
Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis. Scaglia F, Vogel H, Hawkins EP, Vladutiu GD, Liu LL, Wong LJ. Am J Med Genet A. 2003 Dec 1;123A(2):172-8. PMID: 14598342
Age and ethnicity affect the risk and outcome of focal segmental glomerulosclerosis. Sorof JM, Hawkins EP, Brewer ED, Boydstun II, Kale AS, Powell DR. Pediatr Nephrol. 1998 Nov;12(9):764-8. PMID: 9874323
