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

Authors :: 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.
Source :: Clinical Case Reports; Oct2015, Vol. 3 Issue 10, p884-887, 4p
Publication Year :: 2015
Abstract: Key Clinical Message In infants, especially with novel previously undescribed mutations of the K<subscript>ATP</subscript> 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. [ABSTRACT FROM AUTHOR]

Subjects :: PEOPLE with diabetes
NEWBORN infant health
GENETIC mutation
POTASSIUM channels
SULFONYLUREAS
IN vitro studies
THERAPEUTICS

Full Text Access

Tools