title: Familial steroid-sensitive idiopathic nephrotic syndrome: seven cases from three families in China.
abstract: OBJECTIVE
  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.
authors.affiliation: University of Hangzhou School of Medicine, The Children's Hospital of Zhejiang, Department of Nephrology, 310006, Zhejiang Province, China.
authors.forename: Yonghui
authors.initials: Y
authors.lastname: Xia
authors.forename: Jianhua
authors.initials: J
authors.lastname: Mao
authors.forename: Xia
authors.initials: X
authors.lastname: Jin
authors.forename: Wenjing
authors.initials: W
authors.lastname: Wang
authors.forename: Lizhong
authors.initials: L
authors.lastname: Du
authors.forename: Aimin
authors.initials: A
authors.lastname: Liu
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002681:China; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009404:Nephrotic Syndrome / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics*; D035583:Rare Diseases / Q000235:genetics* / Q000473:pathology
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein