Open AccessThe value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2‐W68G mutation
Author(s) -
O'Connell Susan M.,
Proks Peter,
Kramer Holger,
Mattis Katia K.,
Sachse Gregor,
Joyce Caroline,
Houghton Jayne A. L.,
Ellard Sian,
Hattersley Andrew T.,
Ashcroft Frances M.,
O'Riordan Stephen M. P.
Publication year - 2015
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.370
Subject(s) - medicine , glibenclamide , kir6.2 , diabetes mellitus , in vitro , mutation , pharmacology , endocrinology , bioinformatics , genetics , gene , biology , protein subunit
Key Clinical Message In infants, especially with novel previously undescribed mutations of the K ATP 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.