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由乙胺丁醇引发的Leber遗传性视神经病变。

Leber's hereditary optic neuropathy precipitated by ethambutol.

作者信息

Ikeda Asako, Ikeda Tomohiro, Ikeda Naohiro, Kawakami Yoshimi, Mimura Osamu

机构信息

Department of Ophthalmology, Takarazuka City Hospital, Takarazuka, Japan.

出版信息

Jpn J Ophthalmol. 2006 May-Jun;50(3):280-3. doi: 10.1007/s10384-005-0308-7.

DOI:10.1007/s10384-005-0308-7
PMID:16767386
Abstract

BACKGROUND

Leber's hereditary optic neuropathy (LHON) predominantly affects young men between 10 and 30 years of age. However, two cases of LHON during ethambutol administration have been reported in older men and one case in an older woman. We now report a second case of an older woman in whom administration of ethambutol triggered the development of LHON.

CASE

A 70-year-old woman received ethambutol, rifampicin, isoniazid, and pyrazinamide for the treatment of tuberculosis.

OBSERVATIONS

Three months after the beginning of this treatment, a marked decrease in visual acuity occurred in both eyes and ethambutol was discontinued. Her corrected visual acuity was 0.03 in both eyes. There was no hyperemia, swelling of the optic disc, or capillary dilatation in either eye. Centrocecal scotomas were found bilaterally. After 1 month, her visual acuity had further decreased to 0.01, and the scotomas had enlarged. At this time, genetic analysis revealed a point mutation in mitochondrial DNA 11778.

CONCLUSIONS

Ethambutol can be a risk factor for LHON because the number of reported ethambutol-related LHON cases has increased to four, including the present one. Ethambutol administration to patients with a family history of LHON should be avoided.

摘要

背景

Leber遗传性视神经病变(LHON)主要影响10至30岁的年轻男性。然而,已有两例老年男性在使用乙胺丁醇期间发生LHON的报道,以及一例老年女性发生LHON的报道。我们现报告第二例老年女性,其使用乙胺丁醇引发了LHON的发生。

病例

一名70岁女性接受乙胺丁醇、利福平、异烟肼和吡嗪酰胺治疗结核病。

观察结果

该治疗开始三个月后,双眼视力显著下降,乙胺丁醇停药。她双眼矫正视力均为0.03。双眼均无充血、视盘肿胀或毛细血管扩张。双侧发现中心暗点。1个月后,她的视力进一步下降至0.01,暗点扩大。此时,基因分析显示线粒体DNA 11778存在点突变。

结论

乙胺丁醇可能是LHON的一个危险因素,因为包括本病例在内,乙胺丁醇相关LHON病例报告数量已增至4例。应避免对有LHON家族史的患者使用乙胺丁醇。

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Leber's hereditary optic neuropathy mutations in ethambutol-induced optic neuropathy.乙胺丁醇所致视神经病变中的莱伯遗传性视神经病变突变
J Neurol. 2003 Jan;250(1):87-9. doi: 10.1007/s00415-003-0960-0.
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Leber hereditary optic neuropathy.莱伯遗传性视神经病变
J Med Genet. 2002 Mar;39(3):162-9. doi: 10.1136/jmg.39.3.162.
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Optic neuropathy after treatment with anti-tuberculous drugs in a subject with Leber's hereditary optic neuropathy mutation.一名患有Leber遗传性视神经病变突变的患者在接受抗结核药物治疗后发生视神经病变。
乙胺丁醇所致视神经病变的遗传学:一项叙述性综述。
Neuroophthalmology. 2022 Aug 2;46(5):304-313. doi: 10.1080/01658107.2022.2100916. eCollection 2022.
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Ethambutol-induced conversion in Leber's hereditary optic neuropathy: 6 years follow-up.乙胺丁醇诱发的莱伯遗传性视神经病变的转化:6年随访
Indian J Ophthalmol. 2022 Jul;70(7):2760-2762. doi: 10.4103/ijo.IJO_1758_21.
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Mitochondrial Mutations in Ethambutol-Induced Optic Neuropathy.乙胺丁醇所致视神经病变中的线粒体突变
Front Cell Dev Biol. 2021 Oct 5;9:754676. doi: 10.3389/fcell.2021.754676. eCollection 2021.
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Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy.磺酰胺类药物在体外会损害线粒体功能,并可能引发莱伯遗传性视神经病变的视力丧失。
Orphanet J Rare Dis. 2021 Feb 4;16(1):64. doi: 10.1186/s13023-021-01690-y.
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Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.线粒体视神经病变——疾病机制与治疗策略。
Prog Retin Eye Res. 2011 Mar;30(2):81-114. doi: 10.1016/j.preteyeres.2010.11.002. Epub 2010 Nov 26.
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Risk factors for ethambutol optic toxicity.乙胺丁醇视神经毒性的危险因素。
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A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778.一例因乙胺丁醇诱发的视神经病变,携带线粒体原发性Leber遗传性视神经病变11778位点的突变。
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