Delegates’ Abstracts

54 MODY-ABBC8 subtype; from diagnosis to transition to sulphonurea

Abstract

Background MODY (maturity onset diabetes of the young) are a group of inherited diabetes caused by genetic mutations. Mutations in ABCC8 affect the sulphonurea receptor 1 (SUR1) protein and can be associated with MODY, neonatal DM, and gestational diabetes.

Case Report(s) Eleven year old Raida Khalaf was admitted to our hospital in August, 2020 with hyperglycemia without Diabetic ketoacidosis. She has a strong family history of transient diabetes. Two of her brothers were diagnosed with diabetes from the age of 3 months which resolved at age of three years (now aged 14 and 17). Her sister had neonatal diabetes which resolved at the age of one year but returned at the age of 18 years. Raida was not diagnosed with neonatal or infantile diabetes. Her siblings were managed with insulin but were not investigated. Raida was started on mixtard insulin (30 R: 70 NPH) but had poor diabetes control and a high HBA1C. Due to her family history, she was sent to a tertiary center in Amman to investigate the possibility of MODY. A lab sample was sent to University of Exeter Medical University genomic lab and she was identified to be heterozygous for the Pathogenic ABCC8 missense mutation. Recommendations for the transition to sulphonurea and a guideline were provided by the lab. Raida was admitted to hospital and successfully transitioned to sulphonurea( glibenclamide) over the course of 10 days. Over the next few months, there was improvement in glycemic control and a significant drop in HBA1C.

Conclusion(s) ABCC8 mutation and other forms of inherited diabetes must be considered in a patient with strong family history of diabetes, for which genetic testing can be done and effective treatment can be started.

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