Denys-Drash syndrome

被引：2

作者：

Lin, HC

Lin, SK

Wen, MC

Tseng, CF

Fu, LS

Chi, CS

机构：

[1] Vet Gen Hosp, Dept Pediat, Taichung 407, Taiwan

[2] Vet Gen Hosp, Dept Family Med, Taichung 407, Taiwan

[3] Vet Gen Hosp, Dept Obstet & Gynecol, Taichung 407, Taiwan

[4] Vet Gen Hosp, Dept Pathol, Taichung 407, Taiwan

来源：

JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION | 2004年 / 103卷 / 01期

关键词：

case report; Denys-Drash syndrome; genes; infant; newborn; mutation; Wilms tumor;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We report a case of Denys-Drash syndrome, a disorder characterized by male pseudohermaphroditism, congenital nephrotic syndrome, and early, renal failure. The patient received dialysis therapy from 15 days of age until his death at the age of 6 months. DNA analysis was performed on the WT1 gene, and a missense point mutation was detected in exon 8 (R366H). After,prenatal confirmation of normal WT1 gene in the family's next child, they had a healthy baby 14 months after the patient's death.

引用

页码：71 / 74

页数：4

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