Familial steroid-sensitive idiopathic nephrotic syndrome: seven cases from three families in China

Clinics (Sao Paulo). 2013 May;68(5):628-31. doi: 10.6061/clinics/2013(05)08.

Abstract

Objectives: Familial steroid-sensitive idiopathic nephrotic syndrome is rare, and only approximately 3% of patients have affected siblings.

Methods: Herein, we report seven cases of patients with steroid-sensitive idiopathic nephrotic syndrome from three Chinese families. Mutational screening of the Nphs2 gene was performed in all the patients.

Results: All seven of the familial steroid-sensitive idiopathic nephrotic syndrome cases in our sample exhibited minimal change disease, and one case also presented with mesangial proliferative glomerulonephritis, according to the renal pathology. No significant was associations were found between Nphs2 gene mutations and the onset of proteinuria and nephrotic syndrome in these familial cases.

Conclusions: The presence of minimal change disease is important, but it is not an unusual finding in patients with familial steroid-sensitive idiopathic nephrotic syndrome, which appears to be clinically benign and genetically distinct from other types of nephrosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • China
  • Female
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Membrane Proteins / genetics*
  • Mutation / genetics*
  • Nephrotic Syndrome / genetics*
  • Nephrotic Syndrome / pathology
  • Pedigree
  • Polymorphism, Genetic / genetics*
  • Rare Diseases / genetics*
  • Rare Diseases / pathology

Substances

  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • NPHS2 protein

Supplementary concepts

  • Nephrosis, congenital