A novel mutation in the ABCC8 gene associated with congenital hyperinsulinism :Case report and literature review
10.3969/j.issn.1006-6187.2018.06.016
- VernacularTitle:儿童先天性高胰岛素血症一例的临床遗传学研究并文献复习
- Author:
Yun ZHANG
1
;
Suijun WANG
;
Huijuan YUAN
Author Information
1. 河南省人民医院内分泌科
- Keywords:
Congenital hyperinsulinism;
Gene mutation;
Misdiagnosis
- From:
Chinese Journal of Diabetes
2018;26(6):512-514
- CountryChina
- Language:Chinese
-
Abstract:
A child was diagnosed as congenital hyperinsulinism (CHI) in Henan Province People's Hospital in Oct 2015.Here we report the clinical features and genetic testing result of this CHI child .The clinical manifestation of this child is episodic convulsions .She has long been misdiagnosed as the status epilepticus .During a seizure,the blood tests showed that blood glucose 1.1 mmol/L,insulin 10.47 mU/L and C-P 0.88 μg/L .A heterozygous mutation in ABCC8 gene c .4607 C ＞ T (p .A1536V) was identified in the child but not in her parents .There was no hypoglycemic episode after the dietary intervention .CHI is mainly characterized by hypoglycaemic convulsions and is easily misdiagnosed .Mutations of ABCC8 might be a main cause of CHI .
