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一名13岁女孩的杰韦尔和朗格-尼尔森综合征（JLNS）：一例罕见病例报告。

Jervell and Lange-Nielsen Syndrome (JLNS) in a 13-Year-Old Girl: A Rare Case Report.

作者信息

Ali Masab, Javeriya Sana, Ahmad Muhammad Husnain, Babar Ilsa, Rehan Muhammad Maaz Bin, Iman Hafiza, Saeed Humza

机构信息

Department of Internal Medicine Punjab Medical College Faisalabad Pakistan.

Department of Medicine Jiius Indian Institute of Medical Science and Research Jalna Maharashtra India.

出版信息

Clin Case Rep. 2025 Apr 16;13(4):e70426. doi: 10.1002/ccr3.70426. eCollection 2025 Apr.

DOI:10.1002/ccr3.70426
PMID:40248607
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12003554/
Abstract

JLNS is a rare genetic disorder characterized by congenital sensorineural hearing loss and a prolonged QTc interval, leading to life-threatening arrhythmias. Early diagnosis, beta-blocker therapy, lifestyle modifications, and consideration of ICD surgery are critical in managing sudden cardiac death risk.

摘要

贾格尔综合征（JLNS）是一种罕见的遗传性疾病，其特征为先天性感音神经性听力损失和QTc间期延长，可导致危及生命的心律失常。早期诊断、β受体阻滞剂治疗、生活方式改变以及考虑植入式心律转复除颤器（ICD）手术对于管理心脏性猝死风险至关重要。

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Jervell and Lange-Nielsen Syndrome (JLNS) in a 13-Year-Old Girl: A Rare Case Report.一名13岁女孩的杰韦尔和朗格-尼尔森综合征（JLNS）：一例罕见病例报告。
Clin Case Rep. 2025 Apr 16;13(4):e70426. doi: 10.1002/ccr3.70426. eCollection 2025 Apr.
2
Left cardiac sympathetic denervation in children with Jervell Lange-Nielsen syndrome and drug refractory torsades - A case series.左心交感神经去神经术治疗Jervell Lange-Nielsen综合征及药物难治性尖端扭转型室速患儿——病例系列
Pacing Clin Electrophysiol. 2023 Oct;46(10):1197-1202. doi: 10.1111/pace.14827. Epub 2023 Sep 20.
3
Prevalence of Jervell-Lange Nielsen syndrome in children with congenital bilateral sensorineural hearing loss.先天性双侧感音神经性聋患儿中 Jervell-Lange Nielsen 综合征的患病率。
Turk Kardiyol Dern Ars. 2021 Jul;49(5):368-376. doi: 10.5543/tkda.2021.44890.
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The Jervell and Lange-Nielsen syndrome; atrial pacing combined with ß-blocker therapy, a favorable approach in young high-risk patients with long QT syndrome?杰韦尔和朗格-尼尔森综合征；心房起搏联合β受体阻滞剂治疗，对长QT综合征年轻高危患者是一种有效的方法吗？
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Jervell and Lange-Nielsen syndrome: homozygous missense mutation of KCNQ1 in a Turkish family.杰韦尔和朗格-尼尔森综合征：一个土耳其家庭中KCNQ1基因的纯合错义突变
Pediatr Cardiol. 2013;34(8):2063-7. doi: 10.1007/s00246-013-0634-3. Epub 2013 Feb 12.
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Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report.一个患有耶尔韦尔和朗格-尼尔森综合征的摩洛哥家庭的临床和分子学发现：病例报告
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Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome.三个患有杰韦尔和朗格-尼尔森综合征的中国家庭的基因型-表型分析。
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Jervell and Lange-Nielsen syndrome with homozygous missense mutation of the KCNQ1 gene.伴有KCNQ1基因纯合错义突变的杰韦尔和朗格-尼尔森综合征
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Jervell and Lange-Nielsen syndrome in a father and daughter from a large highly inbred family: a 16-year follow-up of 59 living members.来自一个高度近亲结婚的大家庭中的一对父女患杰韦尔和朗格-尼尔森综合征：对59名在世成员的16年随访
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Treatment on arrhythmia electric storm in a Jervell and Lange-Nielsen syndrome patient by ablation of the triggering premature ventricular contraction: a case report.通过消融触发室性早搏治疗杰韦尔和朗格-尼尔森综合征患者的心律失常电风暴：一例报告
Ann Palliat Med. 2021 Apr;10(4):4938-4943. doi: 10.21037/apm-19-460a. Epub 2020 Oct 9.

本文引用的文献

1
Macro T-wave Alternans in Jervell and Lange-Nielsen Syndrome.杰韦尔和朗格-尼尔森综合征中的宏观T波交替变化
Cureus. 2023 Feb 8;15(2):e34762. doi: 10.7759/cureus.34762. eCollection 2023 Feb.
2
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.KCNE1 缺乏症在 Jervell 和 Lange-Nielsen 综合征及 Romano-Ward 综合征中的突变和表型谱。
Hum Mutat. 2019 Feb;40(2):162-176. doi: 10.1002/humu.23689. Epub 2018 Dec 12.
3
"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".3个患有耶尔韦尔和朗格-尼尔森综合征的土耳其家庭中的纯合及复合杂合突变：病例报告
BMC Med Genet. 2017 Oct 16;18(1):114. doi: 10.1186/s12881-017-0474-8.
4
Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report.一个患有耶尔韦尔和朗格-尼尔森综合征的摩洛哥家庭的临床和分子学发现：病例报告
J Med Case Rep. 2017 Apr 2;11(1):88. doi: 10.1186/s13256-017-1243-1.
5
Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.KCNQ1纯合性和复合杂合性中感音神经性耳聋的患病率及潜在遗传决定因素
Circ Cardiovasc Genet. 2013 Apr;6(2):193-200. doi: 10.1161/CIRCGENETICS.112.964684. Epub 2013 Feb 7.
6
Iron-deficiency anaemia, gastric hyperplasia, and elevated gastrin levels due to potassium channel dysfunction in the Jervell and Lange-Nielsen Syndrome.杰韦尔和朗格-尼尔森综合征中因钾通道功能障碍导致的缺铁性贫血、胃增生和胃泌素水平升高。
Cardiol Young. 2013 Jun;23(3):325-34. doi: 10.1017/S1047951112001060. Epub 2012 Jul 18.
7
Congenital long QT syndrome.先天性长QT综合征
Orphanet J Rare Dis. 2008 Jul 7;3:18. doi: 10.1186/1750-1172-3-18.
8
Role of implantable cardioverter defibrillator therapy in patients with long QT syndrome.植入式心脏复律除颤器治疗在长QT综合征患者中的作用。
Am Heart J. 2007 Apr;153(4 Suppl):53-8. doi: 10.1016/j.ahj.2007.01.025.
9
The KCNQ1 potassium channel: from gene to physiological function.KCNQ1钾通道：从基因到生理功能
Physiology (Bethesda). 2005 Dec;20:408-16. doi: 10.1152/physiol.00031.2005.
10
Implantable cardioverter-defibrillators in children: a single-institutional experience.儿童植入式心脏复律除颤器：单机构经验
Ann Thorac Surg. 1998 Mar;65(3):775-8. doi: 10.1016/s0003-4975(97)01434-3.