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.
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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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。
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