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A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes

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 ATP-sensitive potassium (K(ATP) ) channel can lead to transient NDM (TNDM) or to permanent NDM (PNDM). A f...

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Detalles Bibliográficos
Autores principales: Gole, Evangelia, Oikonomou, Stavroula, Ellard, Sian, De Franco, Elisa, Karavanaki, Kyriaki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985388/
https://www.ncbi.nlm.nih.gov/pubmed/28943514
http://dx.doi.org/10.4274/jcrpe.5166
Descripción
Sumario: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 ATP-sensitive potassium (K(ATP) ) channel can lead to transient NDM (TNDM) or to permanent NDM (PNDM). A female infant presented on the 22(nd) day of life with severe hyperglycemia and ketoacidosis (glucose: 907mg/dL, blood gas pH: 6.84, HCO(3): 6 mmol/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 subsequent normal 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. 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 K(ATP) channel function leading to TNDM.