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) (Meyrier, 2005).
For a ... 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) (Meyrier, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278).
Lowik et al. (2007) reported a boy with severe early-onset nephrotic syndrome associated with FSGS who was born of consanguineous parents of Mediterranean ancestry. At age 10 months, he showed failure to thrive, proteinuria, microscopic hematuria, and anemia. ... Lowik et al. (2007) reported a boy with severe early-onset nephrotic syndrome associated with FSGS who was born of consanguineous parents of Mediterranean ancestry. At age 10 months, he showed failure to thrive, proteinuria, microscopic hematuria, and anemia. Renal biopsy showed focal segmental glomerulosclerosis with mesangial matrix expansion and mild effacement of the podocyte processes. The disease progressed, and he had successful renal transplant at age 5 years.
Kim et al. (2003) found that mice with haploinsufficiency for CD2AP exhibit a phenotype similar to human FSGS. They screened a study population of 30 African Americans with idiopathic FSGS as well as 15 African Americans with HIV-associated ... Kim et al. (2003) found that mice with haploinsufficiency for CD2AP exhibit a phenotype similar to human FSGS. They screened a study population of 30 African Americans with idiopathic FSGS as well as 15 African Americans with HIV-associated FSGS. As a normal control group, they selected 45 African Americans who had had HIV infection for at least 8 years with normal kidney function. Kim et al. (2003) detected 6 distinct DNA variants in 10 of 45 patients that were not present in any of the control subjects. One nucleotide variant, detected in 2 patients with primary FSGS, was predicted to alter the expression of CD2AP. This 2-bp substitution altered the exon 7 splice acceptor site (604241.0001). In a boy with nephrotic syndrome associated with focal segmental glomerulosclerosis, Lowik et al. (2007) identified a homozygous mutation in the CD2AP gene (R612X; 604241.0002). There was no expression of the mutant protein in patient lymphocytes, consistent with a complete loss of function. Each unaffected parent was heterozygous for the mutation, indicating that heterozygosity for this mutation does not result in renal disease.