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首例 KCNJ11 Q52R 突变导致的新生儿糖尿病经磺脲类药物成功转换治疗。

First case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment.

机构信息

"Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania.

"Elias" University Emergency Hospital, Bucharest, Romania.

出版信息

J Diabetes Investig. 2017 Sep;8(5):716-719. doi: 10.1111/jdi.12620. Epub 2017 Feb 16.

DOI:10.1111/jdi.12620
PMID:28083968
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5583959/
Abstract

In this report, we present the first known case of intermediate developmental delay, epilepsy and permanent neonatal diabetes (DEND) syndrome caused by a Q52R mutation in the KCNJ11 gene who was successfully switched (at age 1.3 years) to sulphonylurea monotherapy, namely glibenclamide. The most recent evaluation, after 2 years, showed a glycated hemoglobin level of 6.0% (42 mmol/mol). This mutation is so severe that none of the previously reported four cases were able to switch from insulin to sulphonylurea monotherapy. The Q52R mutation seems to have a chance of positive response to glibenclamide administered every 3-6 h instead of the classical 8-12 h, in doses around or above 2.5 mg/kg/day.

摘要

在本报告中，我们介绍了首例由 KCNJ11 基因 Q52R 突变引起的中间型发育迟缓、癫痫和永久性新生儿糖尿病（DEND）综合征，该患者在 1.3 岁时成功切换至磺脲类药物单药治疗，即格列本脲。最近的评估（2 年后）显示糖化血红蛋白水平为 6.0%（42mmol/mol）。这种突变非常严重，之前报道的 4 例病例均未能从胰岛素切换至磺脲类药物单药治疗。Q52R 突变似乎对每 3-6 小时给予的格列本脲有积极的反应，而不是经典的 8-12 小时，剂量约为或高于 2.5mg/kg/天。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d21e/5583959/ce39b8ea2408/JDI-8-716-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d21e/5583959/ce39b8ea2408/JDI-8-716-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d21e/5583959/ce39b8ea2408/JDI-8-716-g001.jpg

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Front Pharmacol. 2022 Jan 14;12:814066. doi: 10.3389/fphar.2021.814066. eCollection 2021.
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J ASEAN Fed Endocr Soc. 2020;35(1):125-128. doi: 10.15605/jafes.035.01.22. Epub 2020 Apr 25.
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本文引用的文献

1
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.KCNJ11型新生儿糖尿病成功转换为使用磺脲类药物治疗取决于突变情况和糖尿病病程。
Diabetologia. 2016 Jun;59(6):1162-6. doi: 10.1007/s00125-016-3921-8. Epub 2016 Mar 31.
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Neonatal diabetes with intractable epilepsy: DEND syndrome.伴有难治性癫痫的新生儿糖尿病：DEND综合征。
Indian J Pediatr. 2014 Dec;81(12):1387-8. doi: 10.1007/s12098-014-1486-4. Epub 2014 Jun 10.
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Permanent neonatal diabetes mellitus caused by a novel mutation in the KCNJ11 gene.
一名因KCNJ11基因p.G53D突变而患糖尿病的3个月大婴儿成功从胰岛素转换为磺脲类药物治疗。
Ann Pediatr Endocrinol Metab. 2018 Sep;23(3):154-157. doi: 10.6065/apem.2018.23.3.154. Epub 2018 Sep 28.
由KCNJ11基因新突变引起的永久性新生儿糖尿病。
J Pediatr Endocrinol Metab. 2014 Mar;27(3-4):367-71. doi: 10.1515/jpem-2013-0068.
4
New uses for old drugs: neonatal diabetes and sulphonylureas.旧药新用：新生儿糖尿病与磺酰脲类药物
Cell Metab. 2010 Mar 3;11(3):179-81. doi: 10.1016/j.cmet.2010.02.004.
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