title: NPHS2 variation in Chinese southern infants with late steroid-resistant nephrotic syndrome.
abstract: Abstract NPHS2 mutations are responsible for autosomal recessive familial steroid-resistant nephrotic syndrome (SRNS) with minor glomerular abnormalities or focal segmental glomerulosclerosis (FSGS), which is characterized by early childhood onset and rapid progression to chronic renal insufficiency. This gene mutation is also responsible for an adolescent onset form of autosomal recessive familial FSGS with heavy proteinuria. Many infants with late steroid-resistant nephrotic syndrome (late SRNS) are prone to an implicated clinical and therapeutic course. The etiopathogenesis and the long-term prognosis of late SRNS remain obscure. Considering the similar steroid resistance between late and initial SRNS, analysis of NPHS2 variation was performed in 70 sporadic Chinese infants with late SRNS and 70 controls in the present study to investigate the possible role of NPHS2 gene in late SRNS. The variation analysis revealed three polymorphisms (288C > T heterozygous in exon 2, 954T > C heterozygous and homozygous, and 1038A > G heterozygous in exon 8) in 22 out of 70 patients studied. In conclusion, NPHS2 gene mutations are not a major cause of chronic renal insufficiency caused by late SRNS in Chinese southern infants.
authors.affiliation: Department of Neonatal, South Medical University Affiliated Maternal & Child Health Hospital of Foshan , Foshan, Guang Dong , China.
authors.forename: Yiheng
authors.initials: Y
authors.lastname: Dai
authors.forename: Hui
authors.initials: H
authors.lastname: Yang
authors.forename: Pingming
authors.initials: P
authors.lastname: Gao
authors.forename: Wei Dong
authors.initials: WD
authors.lastname: Liu
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D002675:Child, Preschool; D002681:China; D005260:Female; D005938:Glucocorticoids / Q000627:therapeutic use; D006579:Heterozygote; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009404:Nephrotic Syndrome / Q000151:congenital* / Q000188:drug therapy / Q000235:genetics; D020641:Polymorphism, Single Nucleotide
chemical_list: D005938:Glucocorticoids; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein
keywords: Infant; NPHS2; SRNS; mutation; nephrotic syndrome