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Scientific article
English

Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome

Published inPediatric Nephrology, vol. 33, no. 3, p. 473-483
Publication date2018
Abstract

Familial steroid-sensitive nephrotic syndrome (SSNS) is a rare condition. The disease pathophysiology remains elusive. However, bi-allelic mutations in the EMP2 gene were identified, and specific variations in HLA-DQA1 were linked to a high risk of developing the disease.

Keywords
  • Adolescent
  • Adult
  • Child
  • Preschool
  • Female
  • Genetic Heterogeneity
  • Genetic Predisposition to Disease
  • Glucocorticoids/therapeutic use
  • HLA-DQ alpha-Chains/genetics
  • Humans
  • Infant
  • Male
  • Membrane Glycoproteins/genetics
  • Middle Aged
  • Mutation
  • Nephrotic Syndrome/drug therapy/genetics
  • Sequence Analysis
  • DNA/methods
  • Young Adult
Funding
  • European Commission - European Consortium for High-Throughput Research in Rare Kidney Diseases [305608]
Citation (ISO format)
DORVAL, Guillaume et al. Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome. In: Pediatric Nephrology, 2018, vol. 33, n° 3, p. 473–483. doi: 10.1007/s00467-017-3819-9
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Article (Published version)
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Identifiers
ISSN of the journal0931-041X
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