Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (review by Meyrier, 2005).
... Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (review by Meyrier, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome (NPHS), see FSGS1 (603278).
Winn et al. (1999, 1999) reported a 399-member Caucasian kindred of British heritage dating back 7 generations from the south of New Zealand in which 14 deceased individuals had had ESRD, 14 living family members were on dialysis ... Winn et al. (1999, 1999) reported a 399-member Caucasian kindred of British heritage dating back 7 generations from the south of New Zealand in which 14 deceased individuals had had ESRD, 14 living family members were on dialysis or had undergone renal transplantation, and 3 individuals were found to have proteinuria greater than 3+ by qualitative urinalysis.
In affected members of the British family segregating FSGS linked to chromosome 11q21-q22 identified by Winn et al. (1999), Winn et al. (2005) identified a mutation in exon 2 of the TRPC2 gene that caused a missense change ... In affected members of the British family segregating FSGS linked to chromosome 11q21-q22 identified by Winn et al. (1999), Winn et al. (2005) identified a mutation in exon 2 of the TRPC2 gene that caused a missense change in the first ankyrin repeat of the protein (P112Q; 603652.0001). Reiser et al. (2005) identified 5 families with autosomal dominant focal segmental glomerulosclerosis in which the disease segregated with mutations in the TRPC6 gene on 11q. Two of the TRPC6 mutants had increased current amplitudes. The authors demonstrated that TRPC6 is expressed in podocytes and is a component of the glomerular slit diaphragm. These data showed that TRPC6 channel activity at the slit diaphragm is essential for proper regulation of podocyte structure and function.