title: Three siblings with steroid-resistant nephrotic syndrome: new NPHS2 mutations in a Turkish family.
abstract: Steroid-resistant nephrotic syndromes often are resistant to additional immunosuppressive agents and tend to progress to end-stage renal disease. Genetic studies in children with familial nephrotic syndrome have identified mutations in genes that encode important podocyte proteins. NPHS2 mutations are responsible for autosomal recessive familial focal segmental glomerulosclerosis (FSGS), and these mutations were detected in both familial and sporadic forms of FSGS. Interethnic differences were suggested to play a role in the incidence of these mutations. In this report, the cases of 3 siblings with steroid-resistant nephrotic syndrome who carry NPHS2 mutations (R238S and P118L) are presented.
authors.affiliation: Pediatric Nephrology, Ankara University Medical School, Ankara, Turkey. ekim@medicine.ankara.edu.tr
authors.forename: Mesiha
authors.initials: M
authors.lastname: Ekim
authors.forename: Z Birsin
authors.initials: ZB
authors.lastname: Ozçakar
authors.forename: Banu
authors.initials: B
authors.lastname: Acar
authors.forename: Selçuk
authors.initials: S
authors.lastname: Yüksel
authors.forename: Fatoş
authors.initials: F
authors.lastname: Yalçnkaya
authors.forename: Ozden
authors.initials: O
authors.lastname: Tulunay
authors.forename: Arzu
authors.initials: A
authors.lastname: Ensari
authors.forename: Bülent
authors.initials: B
authors.lastname: Erbay
mesh_terms: D000293:Adolescent; D000305:Adrenal Cortex Hormones / Q000494:pharmacology / Q000627:therapeutic use; D019943:Amino Acid Substitution; D002648:Child; D003062:Codon / Q000235:genetics; D004351:Drug Resistance; D005808:Genes, Recessive; D005923:Glomerulosclerosis, Focal Segmental / Q000150:complications / Q000235:genetics*; D006801:Humans; D007166:Immunosuppressive Agents / Q000494:pharmacology / Q000627:therapeutic use; D047908:Intracellular Signaling Peptides and Proteins; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000628:therapy; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency / Q000235:genetics*; D020125:Mutation, Missense; D009404:Nephrotic Syndrome / Q000188:drug therapy / Q000209:etiology*; D010530:Peritoneal Dialysis; D017354:Point Mutation; D035781:Siblings; D014421:Turkey
chemical_list: D000305:Adrenal Cortex Hormones; D003062:Codon; D007166:Immunosuppressive Agents; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein