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Title:

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

Document type:
Journal Article
Author(s):
Eichinger, Anna; Ponsel, Sabine; Bergmann, Carsten; Günthner, Roman; Hoefele, Julia; Amann, Kerstin; Lange-Sperandio, Bärbel
Abstract:
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, kidn...     »
Journal title abbreviation:
Pediatr Nephrol
Year:
2018
Journal volume:
33
Journal issue:
7
Pages contribution:
1269-1272
Fulltext / DOI:
doi:10.1007/s00467-018-3961-z
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/29663071
Print-ISSN:
0931-041X
TUM Institution:
Fachgebiet Nephrologie (Prof. Heemann); Institut für Humangenetik
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