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儿童磺脲类药物反应性糖尿病

Sulfonylurea-responsive diabetes in childhood.

作者信息

Landau Zohar, Wainstein Julio, Hanukoglu Aaron, Tuval Myriam, Lavie Judith, Glaser Benjamin

机构信息

Diabetes Unit, E. Wolfson Medical Center, Holon, Israel.

出版信息

J Pediatr. 2007 May;150(5):553-5. doi: 10.1016/j.jpeds.2007.03.004.

DOI:10.1016/j.jpeds.2007.03.004
PMID:17452235
Abstract

We describe a family in which 3/6 siblings had transient, relapsing neonatal diabetes. The father and another sibling had diabetes diagnosed at 20 and 9 years old, respectively. All affected individuals carried the same KCNJ11 gene mutation. In all, sulfonylurea treatment permitted cessation of insulin treatment, with improved glycemic control.

摘要

我们描述了一个家庭,其中6个兄弟姐妹中有3个患有短暂复发性新生儿糖尿病。父亲和另一个兄弟姐妹分别在20岁和9岁时被诊断出患有糖尿病。所有受影响的个体都携带相同的KCNJ11基因突变。总体而言,磺脲类药物治疗使胰岛素治疗得以停止,血糖控制得到改善。

相似文献

1
Sulfonylurea-responsive diabetes in childhood.儿童磺脲类药物反应性糖尿病
J Pediatr. 2007 May;150(5):553-5. doi: 10.1016/j.jpeds.2007.03.004.
2
Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a new KCNJ11 mutation.成功用磺酰脲类药物治疗因 KCNJ11 新突变导致的新生儿糖尿病的新生儿。
Diabetes Res Clin Pract. 2011 Jan;91(1):e1-3. doi: 10.1016/j.diabres.2010.09.027. Epub 2010 Nov 5.
3
Outpatient transition of an infant with permanent neonatal diabetes due to a KCNJ11 activating mutation from subcutaneous insulin to oral glyburide.一名因KCNJ11激活突变导致永久性新生儿糖尿病的婴儿从皮下注射胰岛素转换为口服格列本脲的门诊过渡治疗。
Pediatr Diabetes. 2008 Jun;9(3 Pt 1):236-9. doi: 10.1111/j.1399-5448.2007.00316.x. Epub 2008 Jan 24.
4
Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11.在一例由KCNJ11突变引起的中间型DEND综合征病例中,磺脲类药物改善了中枢神经系统功能。
Nat Clin Pract Neurol. 2007 Nov;3(11):640-5. doi: 10.1038/ncpneuro0640.
5
Transfer to sulphonylurea therapy in adult subjects with permanent neonatal diabetes due to KCNJ11-activating [corrected] mutations: evidence for improvement in insulin sensitivity.对于因KCNJ11激活[校正后]突变导致永久性新生儿糖尿病的成年患者,转换为磺脲类药物治疗:胰岛素敏感性改善的证据。
Diabetes Care. 2007 Jan;30(1):147-9. doi: 10.2337/dc06-1628.
6
Transition from insulin to glyburide in a 4-month-old girl with neonatal diabetes mellitus caused by a mutation in KCNJ11.一名因KCNJ11基因突变导致新生儿糖尿病的4个月大女孩从胰岛素治疗转换为格列本脲治疗。
Pediatr Diabetes. 2007 Aug;8(4):235-8. doi: 10.1111/j.1399-5448.2007.00231.x.
7
Successful transfer from insulin to oral sulfonylurea in a 3-year-old girl with a mutation in the KCNJ11 gene.一名患有KCNJ11基因突变的3岁女孩成功从胰岛素转换为口服磺脲类药物治疗。
Ann Saudi Med. 2010 Mar-Apr;30(2):162-4. doi: 10.4103/0256-4947.60526.
8
[Diabetes in infants may be treated with sulfonylurea as a replacement for insulin].婴儿糖尿病可用磺脲类药物治疗以替代胰岛素。
Ugeskr Laeger. 2009 Jun 1;171(23):1923-4.
9
Sulfonylurea-responsive neonatal diabetes mellitus diagnosed through molecular genetics in two children and in one adult after a long period of insulin treatment.
Acta Biomed. 2012 Apr;83(1):56-61.
10
KCNJ11 in-frame 15-bp deletion leading to glibenclamide-responsive neonatal diabetes mellitus in a Chinese child.中国一名儿童中KCNJ11基因15个碱基对的框内缺失导致对格列本脲敏感的新生儿糖尿病。
J Pediatr Endocrinol Metab. 2013;26(7-8):743-6.

引用本文的文献

1
Management of Neonatal Diabetes due to a Mutation with Automated Insulin Delivery System and Remote Patient Monitoring.采用自动胰岛素输注系统和远程患者监测对因突变导致的新生儿糖尿病进行管理。
Case Rep Endocrinol. 2023 Aug 23;2023:8825724. doi: 10.1155/2023/8825724. eCollection 2023.
2
Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.外显子组测序和高通量基因分型将 KCNJ11 鉴定为第十三型 MODY 基因。
PLoS One. 2012;7(6):e37423. doi: 10.1371/journal.pone.0037423. Epub 2012 Jun 11.
3
Permanent neonatal diabetes mellitus: same mutation, different glycemic control with sulfonylurea therapy on long-term follow-up.
永久性新生儿糖尿病:相同突变,磺脲类药物治疗长期随访中血糖控制情况不同
J Clin Res Pediatr Endocrinol. 2012 Jun;4(2):107-10. doi: 10.4274/jcrpe.524.
4
Neonatal diabetes mellitus: a model for personalized medicine.新生儿糖尿病:个性化医学的典范。
Trends Endocrinol Metab. 2010 Aug;21(8):464-72. doi: 10.1016/j.tem.2010.03.004. Epub 2010 Apr 29.
5
Neonatal diabetes mellitus.新生儿糖尿病
Endocr Rev. 2008 May;29(3):265-91. doi: 10.1210/er.2007-0029. Epub 2008 Apr 24.
6
K(ATP) channel pharmacogenomics: from bench to bedside.K(ATP)通道药物基因组学:从 bench 到 bedside
Clin Pharmacol Ther. 2008 Feb;83(2):354-7. doi: 10.1038/sj.clpt.6100378. Epub 2007 Oct 24.