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Title of Journal: Eur J Pediatr

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Abbravation: European Journal of Pediatrics

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Springer-Verlag

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10.1016/0016-2361(88)90027-0

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1432-1076

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Discordant expression of a new Emphasis Type="Ita

Authors: Filip Fencl Michal Malina Veronika Stará Jakub Zieg Dana Mixová Tomáš Seeman Květa Bláhová
Publish Date: 2011/05/26
Volume: 171, Issue: 1, Pages: 121-124
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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 DenysDrash 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/135 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 endstage renal failure and death in both twins which is in striking contrast to the manifestation in their fatherThis work was supported by grant GAUK Grant Agency of the Charles University No 910 10 and grant of the Ministry of Health Czech Republic VZ No 0006420301 We would like to thank Dr Beata Lipska PhD for the help with correct nomenclature of WT1 mutations

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