Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction

被引：13

作者：

Numakura, Chikahiko ^{[1
]}

Hashimoto, Yukiko ^{[2
]}

Daitsu, Takashi ^{[1
]}

Hayasaka, Kiyoshi ^{[1
]}

Mitsui, Tetsuo ^{[1
]}

Yorifuji, Tohru ^{[2
]}

机构：

[1] Yamagata Univ, Sch Med, Dept Pediat, Yamagata 99023, Japan

[2] Osaka City Gen Hosp, Childrens Med Ctr, Dept Pediat Endocrinol & Metab, Osaka, Japan

来源：

DIABETES RESEARCH AND CLINICAL PRACTICE | 2015年 / 108卷 / 03期

关键词：

HNF4A; Congenital hyperinsulinism; Fanconi syndrome; Nephrocalcinosis; Hepatomegaly; EXPRESSION; MUTATIONS; HNF4A; LIVER; GENE;

D O I：

10.1016/j.diabres.2015.03.005

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The HNF4A p.R76W mutation causes congenital hyperinsulinism with Fanconi syndrome. Here, we report two cases who also presented with increased urinary calcium excretion and one had a transient hepatic dysfunction with hepatomegaly. Clinical variations including transient liver dysfunction is a likely mutation-specific clinical characteristic. (c) 2015 Elsevier Ireland Ltd. All rights reserved.

引用

页码：E53 / E55

页数：3

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