分子遺伝医学

Relapsing Transient Neonatal Diabetes Mellitus due to ABCC8 Mutation

Abstract

Poovazhagi V and Thangavelu S

Neonatal diabetes mellitus with onset in the first six months of life is predominantly monogenic. Genetic evaluation of such infants is mandatory irrespective of the diabetic duration. Management of sulphonylurea responsive mutation induced diabetes is rewarding as it improves the metabolic control without exogenous insulin lifelong. Here we present a child with neonatal onset diabetes who remitted at 10 months of age and relapsed at 10 years, 8 months of age and was effectively switched over to oral sulphonylurea following identification of mutation in the ABCC8- SUR1 subunit of the K-ATP channel.