Neonatal Diabetes and the K Channel: From Mutation to Therapy

Overview

Journal Trends Endocrinol Metab

Specialty Endocrinology

Date 2017 Mar 7

PMID 28262438

Citations 46

Authors

Frances M Ashcroft

Michael C Puljung

Natascia Vedovato

Affiliations

Soon will be listed here.

Abstract

Activating mutations in one of the two subunits of the ATP-sensitive potassium (K) channel cause neonatal diabetes (ND). This may be either transient or permanent and, in approximately 20% of patients, is associated with neurodevelopmental delay. In most patients, switching from insulin to oral sulfonylurea therapy improves glycemic control and ameliorates some of the neurological disabilities. Here, we review how K channel mutations lead to the varied clinical phenotype, how sulfonylureas exert their therapeutic effects, and why their efficacy varies with individual mutations.

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