title: Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to podocin (NPHS2) gene mutation.
abstract: Podocin mutations (NPHS2 gene) are mostly responsible for steroid-resistant nephrotic syndrome (SRNS) of childhood onset. Patients with NPHS2 gene mutations do not respond to corticoids and other immunosuppressive agents; partial remission can be rarely induced by cyclosporin A. We present a boy, where SRNS was diagnosed within first year of life. By the age of 15 years, proteinuria reached 9000 mg/24 h, cholesterolemia 15 mmol/L, albuminemia 19.6 g/L, in spite of combined therapy with cyclosporine A, methylprednisolone, enalapril and losartan. At that time a combined heterozygous form of two NPHS2 gene mutations (p.R138Q and p.V290M) was diagnosed, methylprednisolone was discontinued and patient underwent ten plasmapheresis procedures. This resulted in clinical improvement (proteinuria 3000 mg/24 h, S-cholesterol 6 mmol/L, albumin 30g/L) lasting for three years. In conclusion, plasmapheresis can result in clinical improvement and stabilization of SRNS caused by podocine mutation, before renal replacement therapy is initiated.
authors.affiliation: Department of Paediatrics, Charles University in Prague, Faculty of Medicine and University Hospital Hradec Králové, Czech Republic. skalova.s@seznam.cz
authors.forename: Sylva
authors.initials: S
authors.lastname: Skálová
authors.forename: Miroslav
authors.initials: M
authors.lastname: Podhola
authors.forename: Karel
authors.initials: K
authors.lastname: Vondrák
authors.forename: Gil
authors.initials: G
authors.lastname: Chernin
mesh_terms: D000293:Adolescent; D004351:Drug Resistance; D005938:Glucocorticoids / Q000627:therapeutic use; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008775:Methylprednisolone / Q000627:therapeutic use; D009154:Mutation; D009404:Nephrotic Syndrome / Q000188:drug therapy / Q000235:genetics / Q000628:therapy*; D010956:Plasmapheresis
chemical_list: D005938:Glucocorticoids; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein; D008775:Methylprednisolone