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伴有难治性癫痫的新生儿糖尿病：DEND综合征。

Neonatal diabetes with intractable epilepsy: DEND syndrome.

作者信息

Singh Poonam, Rao Sudha Chandrashekhar, Parikh Ruchi

机构信息

Department of Pediatrics, Division of Pediatric Endocrinology, B. J. Wadia Hospital for Children, Parel, Mumbai, India,

出版信息

Indian J Pediatr. 2014 Dec;81(12):1387-8. doi: 10.1007/s12098-014-1486-4. Epub 2014 Jun 10.

DOI:10.1007/s12098-014-1486-4
PMID:24912436
Abstract

Permanent Neonatal Diabetes Mellitus (PNDM), is a rare monogenic disorder, caused by activating mutations of the KATP channel. The most severe clinical form of PNDM presents as Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome. Diagnosis is confirmed by genetic mutation testing. Oral sulfonylurea therapy improves neurological outcome.

摘要

永久性新生儿糖尿病（PNDM）是一种罕见的单基因疾病，由KATP通道的激活突变引起。PNDM最严重的临床形式表现为发育迟缓、癫痫和新生儿糖尿病（DEND）综合征。通过基因突变检测确诊。口服磺脲类药物治疗可改善神经学预后。

相似文献

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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.
2
Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and seizures (DEND syndrome) due to R50P KCNJ11 mutation.因R50P KCNJ11突变导致的新生儿糖尿病、发育迟缓与癫痫（DEND综合征）成功过渡至使用磺脲类药物治疗。
Diabetes Res Clin Pract. 2015 Apr;108(1):e18-20. doi: 10.1016/j.diabres.2014.12.010. Epub 2015 Jan 30.
3
Permanent neonatal diabetes mellitus caused by a novel mutation in the KCNJ11 gene.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
DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea.携带杂合型KCNJ11突变的DEND综合征经磺脲类药物成功治疗
J Korean Med Sci. 2017 Jun;32(6):1042-1045. doi: 10.3346/jkms.2017.32.6.1042.
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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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Successful transition to sulfonylurea therapy in two Iraqi siblings with neonatal diabetes mellitus and iDEND syndrome due to ABCC8 mutation.两名患有新生儿糖尿病和因ABCC8突变导致的iDEND综合征的伊拉克兄妹成功过渡到磺脲类药物治疗。
J Pediatr Endocrinol Metab. 2016 Dec 1;29(12):1403-1406. doi: 10.1515/jpem-2016-0149.
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Molecular and clinical features of K -channel neonatal diabetes mellitus in Japan.日本 K 通道新生儿糖尿病的分子和临床特征。
Pediatr Diabetes. 2017 Nov;18(7):532-539. doi: 10.1111/pedi.12447. Epub 2016 Sep 29.
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An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.KCNJ11基因中的一个ATP结合突变（G334D）与一种对磺脲类药物不敏感的发育迟缓、癫痫和新生儿糖尿病形式有关。
Diabetes. 2007 Feb;56(2):328-36. doi: 10.2337/db06-1275.
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The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.Kir6.2（KCNJ11）基因中的G53D突变与新生儿糖尿病及成年期运动功能障碍相关，而磺脲类药物治疗可改善该运动功能障碍。
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10
Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2.婴儿痉挛是DEND综合征的一种癫痫特征，与钾三磷酸腺苷（ATP）通道Kir6.2中的激活突变相关。
J Child Neurol. 2007 Sep;22(9):1147-50. doi: 10.1177/0883073807306272.

引用本文的文献

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Glycaemic Imbalances in Seizures and Epilepsy of Paediatric Age: A Literature Review.儿童期癫痫发作和癫痫中的血糖失衡：文献综述
J Clin Med. 2023 Mar 29;12(7):2580. doi: 10.3390/jcm12072580.
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Severe Developmental Delay, Epilepsy and Neonatal Diabetes (DEND) Syndrome: A Case Report.重度发育迟缓、癫痫与新生儿糖尿病（DEND）综合征：一例报告
J ASEAN Fed Endocr Soc. 2020;35(1):125-128. doi: 10.15605/jafes.035.01.22. Epub 2020 Apr 25.
3
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本文引用的文献

1
Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up.一过性新生儿糖尿病、ZFP57 及多个印迹基因座低甲基化：详细随访研究
Diabetes Care. 2013 Mar;36(3):505-12. doi: 10.2337/dc12-0700. Epub 2012 Nov 12.
2
Current understanding of K ATP channels in neonatal diseases: focus on insulin secretion disorders.目前对新生儿疾病中 KATP 通道的认识：重点关注胰岛素分泌紊乱。
Acta Pharmacol Sin. 2011 Jun;32(6):765-80. doi: 10.1038/aps.2011.57. Epub 2011 May 23.
3
Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation.
Epilepsia Open. 2018 Mar 14;3(2):134-166. doi: 10.1002/epi4.12102. eCollection 2018 Jun.
4
First case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment.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。
J Diabetes Investig. 2017 Sep;8(5):716-719. doi: 10.1111/jdi.12620. Epub 2017 Feb 16.
5
Infantile onset diabetes mellitus in developing countries - India.发展中国家（印度）的婴幼儿期糖尿病
World J Diabetes. 2016 Mar 25;7(6):134-41. doi: 10.4239/wjd.v7.i6.134.
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.
4
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.
5
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.
6
Neonatal Diabetes Mellitus -- genetic aspects 2004.新生儿糖尿病——遗传因素 2004年
Pediatr Endocrinol Rev. 2004 Dec;2(2):193-8.
7
Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.Kir6.2基因激活突变与新生儿糖尿病：新的临床综合征、新的科学见解及新疗法
Diabetes. 2005 Sep;54(9):2503-13. doi: 10.2337/diabetes.54.9.2503.
8
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.与新生儿糖尿病或伴有神经学特征的新生儿糖尿病相关的Kir6.2突变的分子基础。
Proc Natl Acad Sci U S A. 2004 Dec 14;101(50):17539-44. doi: 10.1073/pnas.0404756101. Epub 2004 Dec 6.
9
Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.在2岁前诊断出的临床定义的1型糖尿病中，编码ATP敏感性钾通道亚基Kir6.2的KCNJ11基因的激活突变很少见。
Diabetes. 2004 Nov;53(11):2998-3001. doi: 10.2337/diabetes.53.11.2998.
10
Permanent neonatal diabetes mellitus: clinical presentation and epidemiology in Oman.永久性新生儿糖尿病：阿曼的临床表现与流行病学
Arch Dis Child Fetal Neonatal Ed. 1999 May;80(3):F209-12. doi: 10.1136/fn.80.3.f209.