Article
Early Postnatal Use of Glibenclamide in Permanent Neonatal Diabetes Secondary to Antenatally Diagnosed KJCN11 Mutation.
Hormone research in paediatrics - 1 Jan 2022
Walton-Betancourth Sandra, Ashford Jennifer, Beardsall Kathy, Gooding Nigel, Gurnell Eleanor M, Hendriks Emile, Hysted Helen, Lee Jenny, Thankamony Ajay, Tseretopoulou Xanthippi, Win Myat, Williams Rachel M
Abstract excerpt
INTRODUCTION: Heterozygous activating mutations in KCNJ11 cause both permanent and transient neonatal diabetes. A minority of patients also have neurological features. Early genetic diagnosis has important therapeutic implications as treatment with sulfonylurea provides good metabolic control and exerts a protective effect on neuromuscular function. CASE PRESENTATION: A term female infant with normal birth weight...
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