A novel KCNJ11 mutation associated with transient neonatal diabetes.


BACKGROUND Neonatal diabetes mellitus (NDM) is a rare type of monogenic diabetes that presents in the first 6 months of life. Activating mutations in the KCNJ11 gene encoding for the Kir6.2 subunit of the KATP channel can lead to transient (TNDM) or permanent neonatal diabetes mellitus (PNDM). CASE REPORT A female infant presented at the 22nd day of life with severe hyperglycemia and ketoacidosis (glucose: 907mg/dl, blood gas pH: 6.84, HCO3: 6mmol/l). She was initially managed with intravenous (IV) fluids and IV insulin. Ketoacidosis resolved within 48 hours and she was started on subcutaneous insulin injections with intermediate acting insulin NPH twice daily requiring initially 0.75-1.35 IU/kg/d. Pre-prandial C-peptide levels were 0.51 ng/ml (normal: 1.77-4.68). Insulin requirements were gradually reduced and insulin administration was discontinued at the age of 10 months with normal subsequent glucose and HbA1c levels. C-peptide levels normalized (pre-prandial: 1.6 ng/ml, postprandial: 2 ng/ml). Genetic analysis identified a novel missense mutation (p.Pro254Gln) in the KCNJ11 gene. CONCLUSION We report a novel KCNJ11 mutation in a patient who presented in the first month of life with a phenotype of NDM that subsided at the age of 10 months. It is likely that the novel p.P254Q mutation results in mild impairment of the KATP channel function leading to TNDM.


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