针对一例携带新型Kir6.2-W68G突变的新生儿糖尿病病例的体外研究价值。
The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation.
作者信息
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
机构信息
Department of Paediatrics and Child Health, Cork University Hospital Cork, Ireland.
Department of Physiology Anatomy & Genetics Parks Road, University of Oxford Oxford, OX1 3PT, UK.
出版信息
Clin Case Rep. 2015 Oct;3(10):884-7. doi: 10.1002/ccr3.370. Epub 2015 Sep 8.
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.
对于婴儿，尤其是那些因KATP通道出现新的、先前未描述的突变而导致新生儿糖尿病的情况，体外研究可用于预测对磺脲类药物治疗的反应，并且如果未观察到预期反应，可支持以高于标准剂量再次试用格列本脲。
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