Synonyms
SRNS
Definition and Characteristics
SRNS is a kidney disease characterized by proteinuria often leading to nephrotic syndrome (NS) with hypoalbuminemia, edema, and hypercholesterolemia. Typically SRNS progresses to renal failure within months or years.
Prevalence
SRNS is the most common form of NS in adults and accounts for 20% of NS in children. SRNS causes 20% of end-stage renal failure in children and 5–10% in adults.
Genes
Most cases of SRNS are non-genetic. So far, mutations in four genes (NPHS2, WT1, ACTN4, and TRPC6) have been identified in familial and sporadic cases.
Molecular and Systemic Pathophysiology
SRNS is caused by the defective function of the filtration barrier in the kidney glomerulus. This filter is composed of three layers: fenestrated endothelium, basement membrane, and epithelial cell (podocyte) foot processes connected by the slit diaphragm. So far, most cases of SRNS are regarded as “acquired.” In these cases, the pathophysiology remains unknown. It...
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References
Boute N, Gribouval O, Roselli S, et al. (2000) NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 24:349–354
Weber S et al. (2004) NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int 66:571–579
Kaplan J et al. (2000) Mutations in ACTN4, encoding a-actinin-4 cause familial-focal segmental glomerulosclerosis. Nat Genet 24:251–256
Winn M et al. (2005) A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis
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© 2009 Springer-Verlag GmbH Berlin Heidelberg
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Jalanko, H. (2009). Nephrotic Syndrome, Steroid Resistant. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_1671
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DOI: https://doi.org/10.1007/978-3-540-29676-8_1671
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-67136-7
Online ISBN: 978-3-540-29676-8
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