An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation

被引：5

作者：

Dayal, Devi ^{[1
]}

Dekate, Parag ^{[1
]}

Sharda, Sheetal ^{[1
]}

Das, Ashim ^{[2
]}

Attri, Savita ^{[1
]}

机构：

[1] Postgrad Inst Med Educ & Res, Dept Pediat, Chandigarh, India

[2] Postgrad Inst Med Educ & Res, Dept Histopathol, Chandigarh, India

来源：

JOURNAL OF PEDIATRIC GENETICS | 2013年 / 2卷 / 02期

关键词：

Fanconi-Bickel syndrome; hypophosphatemic rickets; glycogen storage disease type XI;

D O I：

10.3233/PGE-13056

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Fanconi-Bickel syndrome is a rare autosomal-recessive disorder caused by defects in the facilitative glucose transporter 2 (GLUT2) gene. It is characterized by hepatorenal glycogen accumulation, tubular nephropathy and impaired utilization of glucose and galactose. In this communication, we present the case of a 5-year-old girl who presented with deforming rickets and massive hepatomegaly. Liver biopsy confirmed the diagnosis of glycogen storage disorder. However, the mutation of the SLC2A2 (GLUT2) gene was not found. Mutation negative patients with characteristic Fanconi-Bickel syndrome phenotype suggest additional underlying mechanisms that need exploration.

引用

页码：109 / 112

页数：4

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