Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation.
作者信息
Zwaveling-Soonawala N, Hagebeuk E E, Slingerland A S, Ris-Stalpers C, Vulsma T, van Trotsenburg A S
出版信息
Diabetologia. 2011 Feb;54(2):469-71. doi: 10.1007/s00125-010-1981-8. Epub 2010 Nov 26.
Abstract
摘要
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1
Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation.一名患有发育迟缓、癫痫和新生儿糖尿病（DEND）综合征且携带新型ABCC8基因突变的婴儿成功转换为磺脲类药物治疗。
Diabetologia. 2011 Feb;54(2):469-71. doi: 10.1007/s00125-010-1981-8. Epub 2010 Nov 26.
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Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation.磺脲类药物治疗可改善一名携带V59M KCNJ11突变患者的认知功能。
Diabet Med. 2008 Mar;25(3):277-81. doi: 10.1111/j.1464-5491.2007.02373.x.
2
Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.口服磺脲类药物对因磺脲类受体1（SUR1）突变所致糖尿病患者的有效治疗。
Diabetes Care. 2008 Feb;31(2):204-9. doi: 10.2337/dc07-1785. Epub 2007 Nov 19.
3
A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.一种导致DEND综合征的新型突变：一种可治疗的胰腺和脑部通道病。
Neurology. 2007 Sep 25;69(13):1342-9. doi: 10.1212/01.wnl.0000268488.51776.53. Epub 2007 Jul 25.
4
Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene.一名患有中度发育迟缓、早发性全身性癫痫和与KCNJ11基因V59M突变相关的新生儿糖尿病的患者，经磺脲类药物治疗后运动发育改善且长期血糖控制良好。
Diabetologia. 2006 Nov;49(11):2559-63. doi: 10.1007/s00125-006-0407-0. Epub 2006 Sep 19.
5
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.因Kir6.2突变导致糖尿病的患者从胰岛素转换为口服磺脲类药物治疗。
N Engl J Med. 2006 Aug 3;355(5):467-77. doi: 10.1056/NEJMoa061759.
6
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.新生儿糖尿病中ABCC8基因的激活突变
N Engl J Med. 2006 Aug 3;355(5):456-66. doi: 10.1056/NEJMoa055068.
7
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.磺脲类受体SUR1（ABCC8）中的杂合激活突变会导致新生儿糖尿病。
Hum Mol Genet. 2006 Jun 1;15(11):1793-800. doi: 10.1093/hmg/ddl101. Epub 2006 Apr 13.
8
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.编码ATP敏感性钾通道亚基Kir6.2的基因中的激活突变与永久性新生儿糖尿病
N Engl J Med. 2004 Apr 29;350(18):1838-49. doi: 10.1056/NEJMoa032922.
9
Transmembrane topology of the sulfonylurea receptor SUR1.磺脲类受体SUR1的跨膜拓扑结构
J Biol Chem. 2001 Nov 2;276(44):41270-8. doi: 10.1074/jbc.M106555200. Epub 2001 Aug 23.
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