TRANSIENT NEONATAL DIABETES CAUSED BY ACTIVATING NOVEL KCNJ11 GENE MUTATION AND SUCCESSFULL TRANSFER TO SULPHONYLUREA THERAPY
Gordana Stipančić, Marija Požgaj Šepec, Lavinia La Grasta Sabolić
Neonatal diabetes mellitus (NDM) is a rare monogenic form of diabetes that usually presents within the first six months of life. It occurs in the form of transient and permanent NDM. Permanent NDM requires life-long treatment while TNDM resolves few weeks or months after treatment initiation, with relapse occuring only in around 50% of patients during their adolescence or young adult life. Mutations in ABCC8, or less often in KCNJ11 gene (coding subunit of the ATP-sensitive potassium channel (KATP channel)) cause the disease in less than 30% of all patients. We present our female patient with transient NDM caused by a novel activating KCNJ11 mutation in the Kir6.2 subunit of the K-ATP channel and her successfull transfer from insulin to sulphonylurea therapy. Genetic testing was done at the age of 22 years, 12 years after disease relapse and ten years of insulin treatment. Three months after transfer to sulphonylurea therapy HbA1c levels normalised, followed by normalisation of C-peptide and insulin values as well. Conclusion: Using genetic analysis to confirm monogenic form of diabetes changes the therapeutical approach with positive effect on disease control and course and opens the possibility of genetic counseling.