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Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to Podocin (NPHS2) gene mutation

Publication at First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Hradec Králové |
2010

Abstract

Podocin mutations (NPHS2 gene) are mostly responsible for steroid-resistant nephrotic syndrome (SRNS). We report partial effect of plasmapheresis with clinical improvement lasting for three years in patient with SRNS due to combined heterozygous form of two NPHS2 gene mutations.