A case of diabetes mellitus with glucokinase regulator gene mutation misdiagnosed as type 1 diabetes

VernacularTitle:一例误诊为1型糖尿病的葡萄糖激酶调节因子基因突变糖尿病的病例报道
Author: Xuefeng LI ¹ ; Weiwei CHEN ; Keyan HU ; Shanlong WANG ; Donghui LI ; Huifang PENG ; Qiuhong MA ; Yujin MA ; Hongwei JIANG
Author Information

1. 河南科技大学第二附属医院内分泌与代谢性疾病科，洛阳　471000
Keywords: Diabetes mellitus, type 1; Monogenic diabetes; Glucokinase regulator; Polycystic ovary syndrome
From: Chinese Journal of Endocrinology and Metabolism 2023;39(3):256-260
CountryChina
Language:Chinese
Abstract: We report a case of a female teenage with monogenic diabetes mellitus caused by glucokinase regulator (GCKR) gene mutation who presented with diabetic ketosis and misdiagnosed as type 1 diabetes. The patient was treated with insulin for 3 years since diagnosis. The islet function was well preserved, but polycystic ovary syndrome was developed. Whole-exome gene sequencing revealed a GCKR gene c. 69delG heterozygous mutation. After molecular diagnosis, the insulin dosage was gradually reduced to full cessation, and only metformin sustained-release tablets were taken to control blood glucose. It is necessary to regular evaluate islet function of patient with type 1 diabetes, and genetic test is of significance for accurate diagnosis and treatment.