二例GCK基因突变致先天性高胰岛素性低血糖症的诊疗和基因检测分析

doi:10.16288/j.yczz.22-226

遗传 ›› 2022, Vol. 44 ›› Issue (11): 1056-1062.doi: 10.16288/j.yczz.22-226

二例GCK基因突变致先天性高胰岛素性低血糖症的诊疗和基因检测分析

贾觉睿智(), 肖诚(), 刘艺文, 李冉, 张化冰, 于淼()

中国医学科学院北京协和医学院，北京协和医院内分泌科，卫健委内分泌重点实验室，北京 100730

收稿日期:2022-06-30 修回日期:2022-09-06 出版日期:2022-11-20 发布日期:2022-09-29
通讯作者: 于淼 E-mail:jjrz@pumch.cn;jz_xiaocheng@163.com;yumiaoxh@163.com
作者简介:贾觉睿智，博士，主治医师，研究方向：内分泌与代谢病方向。E-mail: jjrz@pumch.cn;|肖诚，在读博士研究生，专业方向：内分泌与代谢病方向。E-mail: jz_xiaocheng@163.com;
贾觉睿智和肖诚并列第一作者。
基金资助:
国家自然科学基金项目(82170855);科技部国家重点研发计划项目(2020YFC2004505);科技部国家重点研发计划项目(2018YFC2001105)

Diagnosis, treatment and genetic analysis of two cases of congenital hyperinsulinemic hypoglycemia caused by GCK gene mutation

Ruizhi Jiajue(), Cheng Xiao(), Yiwen Liu, Ran Li, Huabing Zhang, Miao Yu()

Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China

Received:2022-06-30 Revised:2022-09-06 Online:2022-11-20 Published:2022-09-29
Contact: Yu Miao E-mail:jjrz@pumch.cn;jz_xiaocheng@163.com;yumiaoxh@163.com
Supported by:
the National Natural Science Foundation of China(82170855);the National Key Research and Development Program(2020YFC2004505);the National Key Research and Development Program(2018YFC2001105)

摘要/Abstract

摘要：

先天性高胰岛素血症(congenital hyperinsulinemia, CHI)是一组由胰腺β细胞不适当分泌胰岛素引起持续低血糖的异质性疾病。迄今发现15种基因突变与CHI相关。编码葡萄糖激酶(glucokinase, GCK)基因突变引起的葡萄糖激酶型高胰岛素血症(GCK-CHI)为CHI的罕见类型。本文主要报道了收集到的2例GCK-CHI患者的临床资料和基因检测结果。通过总结2例患者的病例特点及其基因检测分析发现，对于临床上反复发作持续性低血糖的患者要考虑CHI。在这部分患者当中进行基因检测有助于避免误诊，提供治疗策略，改善预后。

关键词: 先天性高胰岛素血症, 低血糖症, 葡萄糖激酶基因突变

Abstract:

Congenital hyperinsulinemia (CHI) is a heterogeneous disorder characterized by persistent hypoglycemia due to inappropriate insulin secretion. A total of 15 gene mutations have already been reported to be associated with CHI. Among them, CHI caused by the GCK mutation is named GCK-CHI, which is considered to be a rare form of CHI. Here, we reported two cases of GCK-CHI diagnosed by genetic testing and summarized the clinical characteristics. In patients with recurrent or persistent hypoglycemia, CHI should be taken into consideration. Genetic testing should be perfomed in these patients to avoid misdiagnosis and provide accurate intervention, thus to improve prognosis.

Key words: congenital hyperinsulinemic, hypoglycemia, GCK gene mutation

贾觉睿智, 肖诚, 刘艺文, 李冉, 张化冰, 于淼. 二例GCK基因突变致先天性高胰岛素性低血糖症的诊疗和基因检测分析[J]. 遗传, 2022, 44(11): 1056-1062.

Ruizhi Jiajue, Cheng Xiao, Yiwen Liu, Ran Li, Huabing Zhang, Miao Yu. Diagnosis, treatment and genetic analysis of two cases of congenital hyperinsulinemic hypoglycemia caused by GCK gene mutation[J]. Hereditas(Beijing), 2022, 44(11): 1056-1062.

图/表 3

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编号	血糖(mmol/L)	胰岛素 (正常参考值：5.2~17.2 μIU/mL)	C肽 (正常参考值：0.8~4.2 ng/mL)	胰岛素原 (正常参考值：30~180 pg/mL)	尿酮体
患者1	2.0~2.1	7.9~10.5	1.38~1.62	138~176	阴性
患者2	2.5~2.7	3.1~-3.6	0.73-0.97	<2	阴性

患者	染色体位置	外显子	突变位点	突变类型	杂合性	变异评级	遗传方式
1	Chr.7:44149848-44149848	3	NM_000162.5:c.295T>A, p.W99R	错义突变	杂合	可能致病 (PS1+PM1+PM2+PP3)	常染色体显性遗传
2	Chr.7:44152339-44152339	6	NM_000162.5:c.591G>C, p.M197I	错义突变	杂合	可能致病 (PS1+PM1+PM2)	常染色体显性遗传

二例GCK基因突变致先天性高胰岛素性低血糖症的诊疗和基因检测分析

Diagnosis, treatment and genetic analysis of two cases of congenital hyperinsulinemic hypoglycemia caused by GCK gene mutation

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