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Suicidal attempt with eliglustat overdose.因依格司他过量导致的自杀未遂。
JIMD Rep. 2022 Oct 4;64(1):23-26. doi: 10.1002/jmd2.12341. eCollection 2023 Jan.
2
Eliglustat: A Review in Gaucher Disease Type 1.依利格鲁司他:戈谢病 1 型治疗药物。
Drugs. 2015 Sep;75(14):1669-78. doi: 10.1007/s40265-015-0468-9.
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Eliglustat Therapy and Genotype依利格鲁司他疗法与基因型
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Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial.依利格鲁司他治疗 1 型戈谢病成人患者的每日一次与每日两次给药:III 期、随机、双盲 EDGE 试验。
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Real-world effectiveness of eliglustat in treatment-naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry.真实世界中依利格鲁司他在国际协作 Gaucher 小组 Gaucher 注册研究中初治和换药患者中的疗效。
Am J Hematol. 2020 Sep;95(9):1038-1046. doi: 10.1002/ajh.25875. Epub 2020 Jun 24.

引用本文的文献

1
Eliglustat and cardiac comorbidities in Gaucher disease: a pharmacogenomic approach to safety and efficacy.依利格鲁司他与戈谢病的心脏合并症:一种关于安全性和疗效的药物基因组学方法
Front Med (Lausanne). 2025 Mar 17;12:1535099. doi: 10.3389/fmed.2025.1535099. eCollection 2025.

本文引用的文献

1
Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results.依洛尤单抗治疗戈谢病 1 型 4.5 年后的临床结局:III 期 ENGAGE 试验的最终结果。
Am J Hematol. 2021 Sep 1;96(9):1156-1165. doi: 10.1002/ajh.26276. Epub 2021 Jul 11.
2
Long-term adverse event profile from four completed trials of oral eliglustat in adults with Gaucher disease type 1.来自四项已完成的口服 eliglustat 治疗 1 型戈谢病成人患者的长期不良事件概况。
Orphanet J Rare Dis. 2019 Jun 7;14(1):128. doi: 10.1186/s13023-019-1085-6.
3
Outcomes after 8 years of eliglustat therapy for Gaucher disease type 1: Final results from the Phase 2 trial.依利格鲁司他治疗戈谢病 1 型 8 年的结果:来自 2 期试验的最终结果。
Am J Hematol. 2019 Jan;94(1):29-38. doi: 10.1002/ajh.25300. Epub 2018 Oct 26.
4
Recent advances in the diagnosis and management of Gaucher disease.戈谢病诊断与治疗的最新进展
Expert Rev Endocrinol Metab. 2018 Mar;13(2):107-118. doi: 10.1080/17446651.2018.1445524. Epub 2018 Mar 12.
5
Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial.依利格鲁司他治疗 1 型戈谢病成人患者的每日一次与每日两次给药:III 期、随机、双盲 EDGE 试验。
Mol Genet Metab. 2018 Mar;123(3):347-356. doi: 10.1016/j.ymgme.2017.12.001. Epub 2018 Jan 4.
6
Cafedrine/Theodrenaline (20:1) Is an Established Alternative for the Management of Arterial Hypotension in Germany-a Review Based on a Systematic Literature Search.咖啡君/茶丙胺(20:1)是德国公认的治疗动脉低血压的替代药物——基于系统文献检索的综述
Front Pharmacol. 2017 Feb 21;8:68. doi: 10.3389/fphar.2017.00068. eCollection 2017.
7
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.戈谢病的病理生理学、临床表现及治疗综述
Int J Mol Sci. 2017 Feb 17;18(2):441. doi: 10.3390/ijms18020441.
8
Gaucher disease epidemiology and natural history: a comprehensive review of the literature.戈谢病的流行病学与自然史:文献综述
Hematology. 2017 Mar;22(2):65-73. doi: 10.1080/10245332.2016.1240391. Epub 2016 Oct 20.
9
Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe.欧洲1型戈谢病成年患者使用依利格鲁司他的管理和监测建议
Eur J Intern Med. 2017 Jan;37:25-32. doi: 10.1016/j.ejim.2016.07.011. Epub 2016 Aug 10.
10
Eliglustat: A Review in Gaucher Disease Type 1.依利格鲁司他:戈谢病 1 型治疗药物。
Drugs. 2015 Sep;75(14):1669-78. doi: 10.1007/s40265-015-0468-9.

因依格司他过量导致的自杀未遂。

Suicidal attempt with eliglustat overdose.

作者信息

Nadler Johannes, Hermanns-Clausen Maren, Dilger Karin

机构信息

Department of General Pediatrics, Adolescent Medicine and Neonatology, Center for Pediatrics Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg Freiburg Germany.

出版信息

JIMD Rep. 2022 Oct 4;64(1):23-26. doi: 10.1002/jmd2.12341. eCollection 2023 Jan.

DOI:10.1002/jmd2.12341
PMID:36636596
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9830020/
Abstract

Eliglustat is an orphan medicine used for long-term treatment of Gaucher disease type 1 (GD1) in adults. GD1 is a genetic condition, in which glucosylceramide builds up in the body, typically in liver, spleen, and bone. Clinical signs and symptoms of the disease are anemia, tiredness, easy bruising, hepatosplenomegaly, bone pain, and fractures. Eliglustat works by blocking glucosylceramide synthase (substrate reduction therapy). This medicine is subject to additional safety monitoring by regulatory authorities in the European Union. Scientific literature on eliglustat overdose is not available. We herein describe successful treatment of a suicidal attempt with massive eliglustat overdose. A 29-year-old female with GD1, a poor metabolizer of cytochrome P450 2D6 on a recommended daily dose of 84 mg of eliglustat, had taken 94 capsules of eliglustat (84 mg per capsule). One hour after ingestion of almost 8 g of eliglustat, the patient suffered from somnolence, severe bradycardia (37 bpm), and hypotension (systolic blood pressure of 70 mm Hg). After intravenous administration of atropine (1 mg) and cafedrine/theoadrenaline (100 mg/5 mg) by the called emergency physician, the patient resolved gradually. She remained 24 h with stable hemodynamics at a nearby intensive care unit. During continuous ECG monitoring, increased frequency of supraventricular ectopic activity and a first-degree atrioventricular block were observed. To our knowledge, this is the first case report on a suicidal attempt with eliglustat.

摘要

eliglustat是一种用于成人1型戈谢病(GD1)长期治疗的孤儿药。GD1是一种遗传性疾病,其中葡糖神经酰胺在体内蓄积,通常在肝脏、脾脏和骨骼中。该疾病的临床体征和症状包括贫血、疲劳、易瘀伤、肝脾肿大、骨痛和骨折。 eliglustat通过阻断葡糖神经酰胺合酶发挥作用(底物减少疗法)。这种药物在欧盟受到监管机构的额外安全监测。目前尚无关于eliglustat过量的科学文献。我们在此描述了一例因大量服用eliglustat自杀未遂的成功治疗案例。一名29岁患有GD1的女性,细胞色素P450 2D6代谢不良,正在服用推荐日剂量84毫克的eliglustat,她服用了94粒eliglustat胶囊(每粒84毫克)。在摄入近8克eliglustat一小时后,患者出现嗜睡、严重心动过缓(37次/分钟)和低血压(收缩压70毫米汞柱)。在出诊的急诊医生静脉注射阿托品(1毫克)和卡非君/去氧肾上腺素(100毫克/5毫克)后,患者逐渐好转。她在附近的重症监护病房血流动力学稳定地待了24小时。在持续心电图监测期间,观察到室上性异位活动频率增加和一度房室传导阻滞。据我们所知,这是首例关于eliglustat自杀未遂的病例报告。