口服沙丁胺醇有效治疗 DOK7 先天性肌无力综合征晚期呼吸障碍:病例报告。

IF 2.3
C. Tomsa, F. Viccaro, Luigi Panza, L. D’Antoni, Paolo Palange
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引用次数: 0

摘要

简介DOK7 基因缺乏症是一种神经肌肉疾病,其突触后神经肌肉接头发生改变,导致进行性呼吸障碍。虽然治疗方法尚未标准化,但肾上腺素能激动剂被建议作为一线治疗。 病例介绍:我们的患者在儿童晚期发病,病程早期全身肌肉无力,无呼吸道症状。随后,当呼吸肌和膈肌受累受损时,发现呼吸功能大幅减退,并伴有低通气和严重饱和度降低。值得注意的是,口服沙丁胺醇在缓解症状和功能障碍方面对呼吸系统有显著的益处,从而显著改善了呼吸系统,提高了生活质量。 结论口服沙丁胺醇治疗与及时的临床识别相结合,可显著改善患者的呼吸状况。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Effective treatment with oral Salbutamol on late onset respiratory impairment in a DOK7 Congenital Myasthenia Syndrome: a case report.
INTRODUCTION DOK7 gene deficiency is a neuromuscular disease with an alteration in post-synaptic neuromuscular junction, leading to progressive respiratory impairment. Although, the therapy is not standardized, adrenergic agonists are suggested as first-line treatment.  Case presentation: Our patient had an ambiguous late childhood-onset and had a generalized muscle weakness free of respiratory symptoms during the early phase of the disease. Subsequently, when the respiratory muscle and the diaphragm involvement was impaired, a substantial loss of respiratory function with hypopneas and severe desaturation was detected. It was noteworthy the striking respiratory beneficial impact of oral salbutamol in the resolution of symptoms and functional impairments, leading to a remarkable respiratory improvement and a better quality of life.  Conclusion: Oral salbutamol treatment combined to a timely clinical recognition led to an outstanding respiratory improvement.
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来源期刊
Multidisciplinary Respiratory Medicine
Multidisciplinary Respiratory Medicine Medicine-Pulmonary and Respiratory Medicine
自引率
0.00%
发文量
23
期刊介绍: Multidisciplinary Respiratory Medicine is the official journal of the Italian Respiratory Society - Società Italiana di Pneumologia (IRS/SIP). The journal publishes on all aspects of respiratory medicine and related fields, with a particular focus on interdisciplinary and translational research. The interdisciplinary nature of the journal provides a unique opportunity for researchers, clinicians and healthcare professionals across specialties to collaborate and exchange information. The journal provides a high visibility platform for the publication and dissemination of top quality original scientific articles, reviews and important position papers documenting clinical and experimental advances.
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