Background: Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes that occurs in the first 6 months of life. Infants with NDM do not produce enough insulin, leading to hyperglycaemia. An identified and potentially treatable form of monogenic diabetes is the neonatal diabetes caused by activating mutations of the KCNJ11 gene, which codes for the Kir6.2 subunit of the beta cell of the ATP sensitive potassium channel (KATP). The identification of KCNJ11 mutation has important therapeutic implications, as many patients can replace insulin injections with sulfonylurea tablets.
Objective: To identify mutations in the KCNJ11 gene as a cause of permanent NDM in order to identify patients carrying this mutation and modify their treatment regimen.
Patients and methods: Sequencing the KCNJ11 gene in 17 Egyptian probands with permanent neonatal diabetes diagnosed with diabetes before the age of 2 years.
Results: One case with a mutation in the KCNJ11 gene (p. R201H) was identified. The patient was successfully shifted from insulin therapy to sulfonylurea. Four previously recognized polymorphisms E23K, I337V, L270V and A190A were detected.
Conclusion: NDM secondary to KCNJ11/Kir6.2 activating mutations has potentially important therapeutic consequences leading to transfering those patients from insulin therapy to sulfonylurea.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology