Transient neonatal diabetes due to a missense mutation (E227K) in the gene encoding the ATP-sensitive potassium channel (KCNJ11)

Autor: Lucinda Pacheco, Maria Isabel Monteiro, Ana Lúcia Maia, João Anselmo, Paula Maciel, Luísa Martins, Rita Lourenço, Maria Fernanda Gomes, Rui César
Jazyk: angličtina
Rok vydání: 2015
Předmět:
Zdroj: Clinical Case Reports
ISSN: 2050-0904
Popis: Key Clinical Message Neonatal diabetes is a monogenic form of diabetes. Herein, we report on a newborn presenting diabetic ketoacidosis at 17 days of life. A KCNJ11 mutation was identified. In such cases, insulin can be replaced by sulfonylurea with a successful metabolic control, as an example of how molecular diagnosis may influence the clinical management of the disorder.
Databáze: OpenAIRE
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