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)
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.
Luyang Li, Sunqiang Liu, Yun Shi, Chengcheng Zhao, Hongwen Zhou, Xuqin Zheng . Diagnosis, treatment and genetic analysis of a case of hypoglycemia caused by glucokinase gene mutation[J]. Hereditas(Beijing), 2022 , 44(9) : 810 -818 . DOI: 10.16288/j.yczz.22-128
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