title: Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation.
abstract: Autosomal recessive steroid-resistant nephrotic syndrome (NS) is a rare, genetically determined nephropathy caused mainly by a mutation in the NPHS2 gene. This type of NS is usually resistant to other immunosuppressive therapy as well, but a few cases of cyclosporine A-induced partial remission of inherited NS have been reported. We present a boy that developed NS at the age of 18 months. There was no decrease of proteinuria on standard prednisolone therapy, and a diagnosis of steroid-resistant NS was established. However, the proteinuria decreased significantly following the initiation of cyclosporine A therapy (from 1280 to 380 mg/m(2) per day) without any negative effects on renal function (stable glomerular filtration rate 130-150 ml/min per 1.73 m(2)). The molecular genetic test revealed a homozygous R138Q mutation in the NPHS2 gene. Our case demonstrates that cyclosporine A can induce partial remission in patients with genetic forms of NS without influencing the glomerular filtration rate. However, its long-term effect and safety in children with hereditary forms of nephrotic syndrome have yet to be investigated.
authors.affiliation: Department of Pediatrics, Second Faculty of Medicine, Charles University-Prague, Prague 5, Czech Republic. michal.malina@lfmotol.cuni.cz
authors.forename: Michal
authors.initials: M
authors.lastname: Malina
authors.forename: Ondrej
authors.initials: O
authors.lastname: Cinek
authors.forename: Jan
authors.initials: J
authors.lastname: Janda
authors.forename: Tomas
authors.initials: T
authors.lastname: Seeman
mesh_terms: D016572:Cyclosporine / Q000627:therapeutic use*; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use*; D007223:Infant; D008297:Male; D009404:Nephrotic Syndrome / Q000151:congenital / Q000188:drug therapy* / Q000235:genetics; D012074:Remission Induction; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C114503:INVS protein, human; D007166:Immunosuppressive Agents; D014157:Transcription Factors; D016572:Cyclosporine