The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation

Susan M O'Connell; Peter Proks; Holger Kramer; Katia K Mattis; Gregor Sachse; Caroline Joyce; Jayne A L Houghton; Sian Ellard; Andrew T Hattersley; Frances M Ashcroft; Stephen M P O'Riordan

doi:10.1002/ccr3.370

The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation

Clin Case Rep. 2015 Oct;3(10):884-7. doi: 10.1002/ccr3.370. Epub 2015 Sep 8.

Affiliations

¹ Department of Paediatrics and Child Health, Cork University Hospital Cork, Ireland.
² Department of Physiology Anatomy & Genetics Parks Road, University of Oxford Oxford, OX1 3PT, UK.
³ Department of Biochemistry, Cork University Hospital Cork, Ireland.
⁴ Institute of Biomedical and Clinical Science, University of Exeter Medical School Exeter, EX2 5AD, UK.

Abstract

In infants, especially with novel previously undescribed mutations of the KATP channel causing neonatal diabetes, in vitro studies can be used to both predict the response to sulphonylurea treatment and support a second trial of glibenclamide at higher than standard doses if the expected response is not observed.

Keywords: Glibenclamide; K-ATP channel; in vitro; neonatal diabetes.

Publication types

Case Reports

The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation

Authors

Affiliations

Abstract

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