Genetic etiology analysis and plans of diagnosis and treatment for 11 children with abnormal glucose metabolism

Objective:To explore the role of genetic etiology analysis in the diagnosis and treatment of children with abnormal glucose metabolism.Methods:The clinical manifestations, genetic etiology and plans of diagnosis and treatment for 11 children with abnormal glucose metabolism admitted to the Department of Pediatrics of the Second Affiliated Hospital of Guangxi Medical University from October 2019 to October 2022 were retrospectively analyzed.Results:Among the 11 children with abnormal glucose metabolism, 5 were diagnosed with hyperinsulinemia (CHI) and 6 with diabetes.Gene variants were identified in 3 out of 5 cases with CHI.Among them, 2 cases showed heterozygous variant in ABCC8 (c.3976G> A) and in FOXA2 (c.428A> G), and their blood glucose levels recovered to the normal range after treatment.A heterozygous variant in KCNJ11(c.560C> A)was detected in 1 case, requiring long-term treatment with diazoxide.All of the 5 cases with CHI were sensitive to diazoxide.Furthermore, heterozygous variants in HNF1A(c.475C> T) and in KCNJ11 (c.601C> T) were detected in 2 out of 6 cases with diabetes, respectively.All of the cases with diabetes were treated with insulin based on initial diagnosis.However, the case with KCNJ11 variant was treated with glibenclamide instead of insulin and all the cases with diabetes were achieving good blood glucose control.Conclusion:Genetic factors are one of the important causes of abnormal glucose metabolism in children.The genetic screening for children with abnormal glucose metabolism to identify their genetic etiology is of great significance for the molecular classification, targeted treatment, end-toend management and improved prognosis of the disease.