Shen LH, Cui Y, Fu DX, Yang W, Wu SN, Wang HZ, Yang HH, Chen YX, Wei HY. Transient diabetes mellitus with ABCC8 variant successfully treated with sulfonylurea: Two case reports and review of literature. World J Diabetes 2024; 15(8): 1811-1819 [PMID: 39192869 DOI: 10.4239/wjd.v15.i8.1811]
Corresponding Author of This Article
Hai-Yan Wei, MD, Chief Doctor, 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, No. 33 Longhu Outer Ring East Road, Zhengdong New District, Zhengzhou 450018, Henan Province, China. haiyanwei2009@163.com
Research Domain of This Article
Endocrinology & Metabolism
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
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, 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
Author contributions: Shen LH designed and performed the research study and wrote the manuscript; Cui Y and Fu DX designed the research and supervised the manuscript; Wang HZ and Yang HH designed the research and contributed to the analysis; Chen YX provided clinical advice; Wei HH made many suggestions for the revised manuscript; All authors have read and approved the final manuscript.
Supported bythe Department of Science and Technology of Henan Province, China, No. 222102310461.
Informed consent statement: This study was approved by the Ethics Committee of the Children's Hospital Affiliated with Zhengzhou University (Approval No. 2023-K-123). Informed consent of the publication of the article or figures was obtained from the patients’ guardian.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read CARE Checklist (2016), and the manuscript was prepared and revised according to CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: Https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Hai-Yan Wei, MD, Chief Doctor, 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, No. 33 Longhu Outer Ring East Road, Zhengdong New District, Zhengzhou 450018, Henan Province, China. haiyanwei2009@163.com
Received: March 22, 2024 Revised: May 24, 2024 Accepted: June 18, 2024 Published online: August 15, 2024 Processing time: 125 Days and 16.8 Hours
Abstract
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 sulf-onylurea 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.
Core Tip: To date there have been no reports of the c.3880C>T heterozygous variant of the ABCC8 gene in patients with diabetes mellitus. After finding that this heterozygous variant can cause transient neonatal diabetes mellitus, we determined that oral sulfonylurea a was safe and effective therapy that successfully replaced insulin in 2 patients with the c.3880C>T heterozygous variant of the ABCC8 gene. This genetic diagnosis will inform clinicians about the probable course and optimal management of diabetes in such patients.
