Article
Neonatal diabetes mellitus due to a new KCNJ11 mutation - 10 years of the patient`s follow-up.
The Turkish journal of pediatrics - 1 Jan 2021
Ješić Maja D, Stock Helena, Zdravković Vera, Kovačević Smiljka, Savić Marko, Ješić Miloš M
Abstract excerpt
BACKGROUND: Mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the ATP-sensitive potassium channel, often result in neonatal diabetes. CASE: In this report, we describe a 10-year-old girl who is heterozygous for a new missense mutation in the KCNJ11 gene and whose treatment was successfully switched from insulin to sulfonylurea (glibenclamide) therapy when she was one month old. 10-year data on a...
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