一例葡萄糖激酶基因突变致低血糖症的诊疗及家系遗传分析
收稿日期: 2022-04-27
修回日期: 2022-06-20
网络出版日期: 2022-08-12
基金资助
国家重点研发计划编号(2019YFA0802701);南京医科大学2021年度校级教育研究课题资助编号(2021YJSLX009)
Diagnosis, treatment and genetic analysis of a case of hypoglycemia caused by glucokinase gene mutation
Received date: 2022-04-27
Revised date: 2022-06-20
Online published: 2022-08-12
Supported by
Supported by the National Key Research and Development Program of China No(2019YFA0802701);2021 School Level Education Research Project of Nanjing Medical University No(2021YJSLX009)
先天性高胰岛素血症(congenital hyperinsulinism, CHI)是由于胰腺β细胞分泌胰岛素失调引起持续性、反复性低血糖发生的病症,其中葡萄糖激酶(glucokinase, GCK)单个等位基因激活突变所致的CHI为最罕见类型。本文收集一例不明原因低血糖症的临床资料,该患者无明显临床症状,在GCK基因3号外显子上检测到1个杂合错义突变(c.295T>C:p.W99R)。3代家系验证发现其儿子、女儿均可见该变异,血糖水平检测偏低,其他人则表现正常。通过总结分析该例病例特点及其家系遗传规律,对于临床上难以明确病因的低血糖症,建议考虑单基因突变致先天性高胰岛素血症致低血糖的可能。该病例也为该疾病后续的遗传学研究提供新的临床资料。
关键词： 葡萄糖激酶; 杂合突变; 先天性高胰岛素血症; 高胰岛素血症性低血糖症
李璐阳, 刘孙强, 施云, 赵成程, 周红文, 郑旭琴 . 一例葡萄糖激酶基因突变致低血糖症的诊疗及家系遗传分析[J]. 遗传, 2022 , 44(9) : 810 -818 . DOI: 10.16288/j.yczz.22-128
Congenital hyperinsulinemia (CHI) is a disease phenotype characterized by persistent or recurrent hypoglycemia due to abnormal secretion of insulin by β cells of the pancreas. CHI induced by activation mutation of a single allele of glucokinase (GCK) is the rarest type. In this paper, the clinical data of a patient with hypoglycemia of unknown cause were collected without obvious clinical symptoms. And a heterozygous missense mutation (c.295T> C:p.W99R) was detected in exon 3 of the GCK gene. The mutation was found in both the son and daughter of the proband, and the blood glucose level was low, while the others were normal. By summarizing and analyzing the characteristics of this case and the genetic pedigree of the family, the possibility of congenital hyperinsulinemia caused by a single gene mutation should be considered for hypoglycemia whose etiology is difficult to be determined clinically. This case also provides new clinical data for subsequent genetic studies of the disease.
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