Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1.
- Anna Eichinger,
- Sabine Ponsel,
- Carsten Bergmann,
- Roman Günthner,
- Julia Hoefele,
- Kerstin Amann,
- Bärbel Lange-Sperandio
Pediatr Nephrol 2018 Apr 16. Epub 2018 Apr 16.
Dr. v. Hauner Children's Hospital, Division of Pediatric Nephrology, Ludwig-Maximilians University, Lindwurmstraße 4, 80337, Munich, Germany.
Background: Congenital nephrotic syndrome (CNS) is primarily a monogenetic disease, with the majority of cases due to changes in five different genes: the nephrin (NPHS1), podocin (NPHS2), Wilms tumor 1 (WT1), laminin ß2 (LAMB2), and phospholipase C epsilon 1 (PLCE1, NPHS3) gene. Usually CNS is not responsive to immunosuppressive therapy, but treatment with ACE inhibitors, AT1 receptor blockade and/or indomethacin can reduce proteinuria. If the disease progresses to end-stage renal disease, kidney transplantation is the therapy of choice. Read More