大剂量口服核黄素治疗核黄素转运蛋白缺乏的益处

IF 3.9 3区 医学 Q1 CLINICAL NEUROLOGY Journal of the Peripheral Nervous System Pub Date : 2023-08-03 DOI:10.1111/jns.12587
Jack R. Fennessy, Kayla M. D. Cornett, Joshua Burns, Manoj P. Menezes
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摘要

核黄素转运蛋白缺乏症(RTD)是一种儿童期发病的进行性遗传性神经病变,其特征为桥脑麻痹、感音神经性耳聋、感觉共济失调、肌肉无力、视神经萎缩和呼吸衰竭。补充核黄素在短期报告中是有益的,但在各种临床领域的获益量尚不清楚。PubMed进行了检索,确定了94例基因确诊的RTD病例,他们接受了核黄素补充并进行了随访评估。收集和分析补充核黄素前后的临床和功能状况。94例患者中有76例(80.9%)在补充核黄素后表现出总体改善,其余(19.1%)表现稳定,尽管一些患者在个别领域出现恶化,未报告死亡。补充核黄素反应率最高的领域是大运动功能(改善93.3%)、球性麻痹(改善91.3%)和共济失调(改善90.0%)。肢体肌肉无力、听力学、面神经麻痹和呼吸功能也有改善。尽管进行了治疗,但许多患者需要辅助行走,并有严重或深度听力损失,一些患者仍然依赖胃造口术或气管造口术。补充核黄素对RTD患者来说是一种挽救生命的干预措施,可以显著改善几个功能领域,早期诊断和治疗可以进一步改善预后。尽管进行了治疗,患者仍会留下残障。有必要准确地测量RTD儿童的功能结局,并开发额外的疾病改善疗法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Benefit of high-dose oral riboflavin therapy in riboflavin transporter deficiency

Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised by pontobulbar palsy, sensorineural deafness, sensory ataxia, muscle weakness, optic atrophy and respiratory failure. Riboflavin supplementation is beneficial in short-term reports, but the quantum of benefit in various clinical domains is not well understood. A PubMed search was conducted, which identified 94 genetically confirmed cases of RTD who received riboflavin supplementation and had follow-up assessments. Information on the clinical and functional status before and after riboflavin supplementation was collected and analysed. Seventy-six of the 94 patients (80.9%) showed an overall improvement after riboflavin supplementation, and the remaining (19.1%) were stable, though some patients had deteriorations in individual domains with no reported deaths. The domains that had the highest rates of response to riboflavin supplementation were gross motor function (93.3% improved), bulbar palsy (91.3%) and ataxia (90.0%). Improvements were also seen in limb muscle weakness, audiology, facial nerve palsy and respiratory function. Despite treatment, many patients required assistance to ambulate and had severe or profound hearing loss and some remained gastrostomy or tracheostomy dependent. Riboflavin supplementation is a lifesaving intervention for patients with RTD and results in a profound improvement in several functional domains, with early diagnosis and treatment further improving outcomes. Despite treatment, patients are left with residual disability. There is a need to accurately measure functional outcomes in children with RTD and develop additional disease-modifying therapies.

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来源期刊
CiteScore
6.10
自引率
7.90%
发文量
45
审稿时长
>12 weeks
期刊介绍: The Journal of the Peripheral Nervous System is the official journal of the Peripheral Nerve Society. Founded in 1996, it is the scientific journal of choice for clinicians, clinical scientists and basic neuroscientists interested in all aspects of biology and clinical research of peripheral nervous system disorders. The Journal of the Peripheral Nervous System is a peer-reviewed journal that publishes high quality articles on cell and molecular biology, genomics, neuropathic pain, clinical research, trials, and unique case reports on inherited and acquired peripheral neuropathies. Original articles are organized according to the topic in one of four specific areas: Mechanisms of Disease, Genetics, Clinical Research, and Clinical Trials. The journal also publishes regular review papers on hot topics and Special Issues on basic, clinical, or assembled research in the field of peripheral nervous system disorders. Authors interested in contributing a review-type article or a Special Issue should contact the Editorial Office to discuss the scope of the proposed article with the Editor-in-Chief.
期刊最新文献
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