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01-01-2012 | Original Paper

Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome

Authors: Filip Fencl, Michal Malina, Veronika Stará, Jakub Zieg, Dana Mixová, Tomáš Seeman, Květa Bláhová

Published in: European Journal of Pediatrics | Issue 1/2012

Abstract

Congenital nephrotic syndrome (CNS) is a heterogeneous group of diseases with different causes and prognoses. Two thirds of cases of NS in the first year of life are caused by mutations in four genes (NPHS1, NPHS2, WT1, and LAMB2). The mutation of WT1 gene can lead to Denys-Drash syndrome (DDS). We report on female monozygotic twins with CNS presenting at 7 and 8 weeks of age with anuric renal failure. Both twins were treated by peritoneal dialysis. Renal biopsy proved diffuse mesangial sclerosis. Genetic analysis detected a new heterozygote WT1 mutation R434P in both twins. One child developed a unilateral nephroblastoma. Both twins died because of complications of CNS (sepsis and extensive thrombosis of central venous system/sepsis and sudden heart failure) at ages 23 weeks/13.5 months, respectively. DNA analysis showed the same WT1 mutation in the father, who showed at his age of 41 years no clinical consequences of this mutation and no signs of DDS. In conclusion, we report the third family with monozygotic twins with DDS due to WT1 mutation. The DDS has very rapidly led to end-stage renal failure and death in both twins which is in striking contrast to the manifestation in their father.

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Title: Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome
Authors: Filip Fencl
Michal Malina
Veronika Stará
Jakub Zieg
Dana Mixová
Tomáš Seeman
Květa Bláhová
Publication date: 01-01-2012
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 1/2012
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-011-1497-3

At a glance: The STEP trials

Springer Medicine

Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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