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Article

Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1.

Pediatric nephrology (Berlin, Germany) - 1 Jul 2018

Eichinger Anna, Ponsel Sabine, Bergmann Carsten, Günthner Roman, Hoefele Julia, Amann Kerstin, Lange-Sperandio Bärbel

Abstract excerpt

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...

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Source

Identifiers

PMID: 29663071
DOI: 10.1007/s00467-018-3961-z

Genes

NPHS1
NPHS2
PLCE1
ACE
LAMB2

Variants

Provenance

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