Transient diabetes mellitus with ABCC8 variant successfully treated with sulfonylurea:Two case reports and review of literature  

作　　者：Ling-Hua Shen Yan Cui Dong-Xia Fu Wei Yang Sheng-Nan Wu Hui-Zhen Wang Hai-Hua Yang Yong-Xing Chen Hai-Yan Wei 

机构地区：[1]Department of Endocrinology and Metabolism,Henan Key Laboratory of Children's Genetics and Metabolic Diseases,Children's Hospital Affiliated to Zhengzhou University,Henan Children's Hospital Zhengzhou Children's Hospital,Zhengzhou 450018,Henan Province,China

出　　处：《World Journal of Diabetes》2024年第8期1811-1819,共9页世界糖尿病杂志（英文版）（电子版）

基　　金：Supported by the Department of Science and Technology of Henan Province,China,No.222102310461。

摘　　要：BACKGROUND Transient neonatal diabetes mellitus(TNDM)is a rare form of diabetes mellitus that usually presents within the first 6 mo of life.Patients often enter remission within several months,although relapse can occur later in life.Mutations in the ABCC8 gene,which encodes the sulfonylurea receptor 1 of the ATP-sensitive potassium channel in pancreatic beta cells,are associated with TNDM and permanent neonatal diabetes.This study describes a novel de novo c.3880C>T heterozygous ABCC8 variant that causes TNDM and can be treated with sulfonylurea therapy.CASE SUMMARY We retrospectively analyzed 2 Chinese patients with TNDM who were diagnosed,treated,or referred for follow-up between September 2017 and September 2023.The patients were tested for mutations using targeted next-generation sequencing.Patients with neonatal diabetes mellitus caused by a c.3880C>T heterozygous missense variant in the ABCC8 gene have not been reported before.Both children had an onset of post-infectious diabetic ketoacidosis,which is worth noting.At a follow-up visit after discontinuing insulin injection,oral glyburide was found to be effective with no adverse reactions.CONCLUSION Early genetic testing of neonatal diabetes mellitus aids in accurate diagnosis and treatment and helps avoid daily insulin injections that may cause pain.

关 键 词：Neonatal diabetes mellitus ABCC8 Sulfonylurea receptors 1 KATP channels SULFONYLUREA GLYBURIDE Insulinulin Case report 

分 类 号：R587.1[医药卫生—内分泌]