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- W1457572186 abstract "This chapter discusses the role of genetic factors in the development of focal segmental glomerulosclerosis in humans. Focal and segmental glomerulosclerosis (FSGS) describes a pathologic lesion observed in a disparate group of clinical disorders, rather than a unique disease entity. Primary FSGS accounts for approximately 15% of children and 30% of adult patients with idiopathic nephrotic syndrome. Autosomal recessive forms of FSGS may be caused by defects in the podocyte slit-diaphragm protein podocin. Congenital nephrotic syndrome of the Finnish type (CNF) is caused by mutations in NPHS1, encoding the slit-diaphragm and podocin-associated protein nephrin. CNF, the most clinically severe of the inherited podocytopathies, presents in utero with severe NS and is resistant to therapy. Autosomal dominant forms of FSGS caused by mutations in the gene ACTN4 typically present later in life and with slower progression when compared to recessive forms. ACTN4 is one of four a-actinin genes and located on chromosome 19q13. These genes encode biochemically similar, highly homologous actin crosslinking proteins. a-Actinin isoforms 2 and 3 are expressed almost exclusively in the sarcomere while a-actinins 1 and 4 are widely expressed. ACTN4 mutations appear to explain only a fraction of autosomal dominant forms of FSGS. A disease locus on chromosome 11q has been implicated in the pathogenesis of another autosomal dominant form of FSGS. Genes encoding podocyte structural proteins may not be the only genes responsible for FSGS. Genes required for podocyte development can also lead to human disease." @default.
- W1457572186 created "2016-06-24" @default.
- W1457572186 creator A5020267280 @default.
- W1457572186 creator A5082082946 @default.
- W1457572186 date "2009-01-01" @default.
- W1457572186 modified "2023-09-27" @default.
- W1457572186 title "Focal Segmental Glomerulosclerosis" @default.
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