focal segmental glomerulosclerosis

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