familial focal segmental glomerulosclerosis
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Pathology
Genetics
- mutations of podocyte proteins[3]
- focal segmental glomerulosclerosis type 1 (FSGS1)
- autosomal dominant
- associated with mutations in alpha-actinin 4 gene
- in vitro the mutation alpha-actinin 4 binds F-actin more strongly than wild type
- focal segmental glomerulosclerosis type 2 (FSGS2)
- autosomal dominant
- defects in TRPC6 gene result in FSGS2
- focal segmental glomerulosclerosis type 3 (FSGS3)
- susceptibility to FSGS3 associated with defects in CD2AP gene
- focal segmental glomerulosclerosis type 4
- autsomal recessive
- associated with defects in APOL1
- often progresses to end-stage renal disease
- focal segmental glomerulosclerosis type 6 (FSGS6)
- associated with defects in MYO1E
- childhood-onset nephrotic syndrome
Clinical manifestations
More general terms
References
- ↑ Kaplan JM et al. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nature Genetics 24:251-6, 2000 PMID: https://www.ncbi.nlm.nih.gov/pubmed/10700177
- ↑ OMIM :accesson 603965
- ↑ 3.0 3.1 Medical Knowledge Self Assessment Program (MKSAP) 17, 19 American College of Physicians, Philadelphia 2015, 2021