Transient neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene
Keywords:ATP-sensitive potassium channel, Neonatal diabetes, ABCC8 gene
Neonatal diabetes mellitus is a rare monogenic form of diabetes that develops in the first 6 months of life. Neonatal diabetes mellitus is commonly divided in two groups as transient and permanent. Genetic and epigenetic anomalies of chromosome 6q24 locus are responsible for 70% of transient neonatal diabetes mellitus cases. Incidence of macroglossia, umbilical hernia, cardiac and renal anomalies is increased in transient neonatal diabetes mellitus patients. Mutations in the genes (ABCC8 and KCNJ11) encoding two protein subunits (SUR1 and Kir6.2) of ATP-sensitive potassium channels constitute the second common cause of transient neonatal diabetes mellitus. In this article, we present a case with homozygous missense mutation (DNA expression: c1456> T), which was found in the ABCC8 gene in a 3.5-month-old patient with no congenital anomalies, leading to transient neonatal diabetes mellitus.
Von Muhlendahl KE, Herkenhoff H. Long-term course of neonatal diabetes. N Engl J Med.1995;333:704–8.
Sperling MA. ATP-sensitive potassium channels: neonatal diabetes mellitus and beyond. N Engl J Med. 2006;355:507–10.
Murphy R, Ellard S, & Hattersley AT. Clinical implications of a molecular genetic classification of monogenic B-cell diabetes. Nat Clin Pract Endocriol Metab. 2008;4:200–13.
Temple IK, Gardner RJ, Mackay DJ, Barber JC, Robinson DO, Shield JP. Transient neonatal diabetes mellitus: widening our understanding of the aetiopathogenesis of diabetes. Diabetes. 2000;49:1359–66.
Docherty LE, Kabwama S, Lehmann A, Hawke E, Harrison L, Flanagan SE, et al. Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. Diabetologia. 2013;56:758–62.
Sperling MA. Neonatal Diabetes Mellitus. In: Sperling MA (ed). Pediatric Endocrinology. Elsevıer Saunders, Philadelphia. 2014;pp.277-90.
Hattersley A, Bruining J, Shield J, Njolstad P, Donaghue KC. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes. 2009;12:33–42.
Pearson ER, Flechtner I, Njolstad PR, Malecki MT, Flanagan SE, Larkin B, et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med. 2006;355:467–77.
How to Cite
Copyright (c) 2019 Edip Unal, Ruken Yıldırım, Funda Feryal Taş, Süleyman Yıldız, Vasfiye Demir, Yusuf Kenan Haspolat
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.