Plasmapheresis-induced Clinical Improvement in a Patient with Steroid-Resistant Nephrotic Syndrome Due to Podocin (<i>NPHS2</i>) Gene Station

Skálová, Sylva; Podhola, Miroslav; Vondrák, Karel; Chernin, Gil

doi:10.14712/18059694.2016.76

Acta Medica > Archive > 2010, Vol. 53 > Issue 3 > Plasmapheresis-induced Clinical…

Acta Med. 2010, 53: 157-159

https://doi.org/10.14712/18059694.2016.76

Plasmapheresis-induced Clinical Improvement in a Patient with Steroid-Resistant Nephrotic Syndrome Due to Podocin (NPHS2) Gene Station

Sylva Skálová^a, Miroslav Podhola^b, Karel Vondrák^c, Gil Chernin^d

^aDepartment of Paediatrics, Charles University in Prague, Faculty of Medicine and University Hospital Hradec Králové, Czech Republic
^bFingerland's Department of Pathology, Charles University in Prague, Faculty of Medicine and University Hospital Hradec Králové, Czech Republic
^cDepartment of Paediatrics, Charles University, 2nd Medical Faculty and Motol Faculty Hospital, Prague, Czech Republic
^dDepartments of Paediatrics and Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA

Received October 25, 2009
Accepted May 17, 2010

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.