Frasier syndrome diagnosed in a 4-year-old girl

被引：2

作者：

Milosevic, Biljana ^{[1
]}

Bogdanovic, Radovan ^{[2
]}

Kostic, Mirjana ^{[3
]}

Stojanovic, Vesna ^{[1
]}

机构：

[1] Inst Child & Youth Hlth Care Vojvodina, Dept Nephrol, Novi Sad, Serbia

[2] Inst Hlth Care Mother & Child Serbia, Dept Nephrol, Belgrade, Serbia

[3] Univ Children Hosp, Dept Nephrol, Belgrade, Serbia

来源：

CENTRAL EUROPEAN JOURNAL OF MEDICINE | 2012年 / 7卷 / 02期

关键词：

Frasier syndrome; Rare mutation; Post-transplantation lymph-proliferative disease; RENAL-FAILURE; WT1;

D O I：

10.2478/s11536-011-0135-9

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The authors present the case of a girl with Frasier syndrome that was diagnosed at the age of 4 years. At 3.5 years, she was diagnosed a steroid-resistant nephrotic syndrome associated with focal segmental glomerulosclerosis. The girl presented with female phenotype and male genotype (46XY) as well with gonadal dysgenesis. Genetic analysis confirmed the +2T > C mutation in the intron 9 of the WT1 gene. She developed end-stage renal disease at 14 years, culminating in renal transplantation. The liver biopsy revealed a post-transplantation lymph-proliferative disease.

引用

页码：142 / 144

页数：3

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