线状肌病患者的高碳酸血症性呼吸衰竭

Q4 Medicine
A. Chuchalin, T. O. Amirova, O. Brodskaya, A. Baranova, I. Butyugina
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引用次数: 0

摘要

神经肌肉疾病通常与一系列呼吸系统并发症相关,对肺科医生提出了诊断和治疗方面的挑战。本文的目的是讨论遗传原因的搜索和呼吸支持手段的情况下,一个男人谁被诊断为NM后50岁。选定的诊断和治疗算法使患者的病情得到了4年的成功控制。全外显子组测序鉴定出线状肌病(NM),一种罕见的由遗传决定的骨骼肌病理。呼吸衰竭综合征被认为是一种危及生命的疾病。临床病程的严重程度和特征取决于特定的突变。NM的典型病程以全身性、缓慢进行性肌病为特征,并可由合并症诱发呼吸衰竭。NM患者呼吸衰竭的过程和处理尚不清楚。全外显子组测序使建立遗传诊断,评估预后和合并症对患者病情的贡献成为可能。无创通气补偿了呼吸衰竭,缓解了右心衰症状。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Hypercapnic respiratory failure in a patient with nemaline myopathy
Neuromuscular diseases are often associated with a range of respiratory complications, presenting both diagnostic and therapeutic challenges for pulmonologists.The aim of this article is to discuss search of genetic causes and means of respiratory support in case of a man who was diagnosed with NM after 50 years of age. The selected diagnostic and treatment algorithms allowed for successful control of the patient’s condition for 4 years. Whole exome sequencing identified nemaline myopathy (NM), a rare genetically-determined skeletal muscle pathology. Respiratory failure syndrome is considered a life-threatening condition in NM. The severity and characteristics of the clinical course vary depending on the specific mutations. The typical course of NM is characterized by generalized, slowly progressive myopathy, and the manifestation of respiratory failure may be triggered by comorbidities.Conclusion. The course and management of respiratory failure in NM are poorly understood. Whole exome sequencing made it possible to establish genetic diagnosis, evaluate prognosis and the contribution of comorbidities to the patient’s condition. Noninvasive ventilation compensated the respiratory failure and resolved the symptoms of right ventricular heart failure.
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来源期刊
Pulmonologiya
Pulmonologiya Medicine-Pulmonary and Respiratory Medicine
CiteScore
1.40
自引率
0.00%
发文量
70
期刊介绍: The aim of this journal is to state a scientific position of the Russian Respiratory Society (RRS) on diagnosis and treatment of respiratory diseases based on recent evidence-based clinical trial publications and international consensuses. The most important tasks of the journal are: -improvement proficiency qualifications of respiratory specialists; -education in pulmonology; -prompt publication of original studies on diagnosis and treatment of respiratory diseases; -sharing clinical experience and information about pulmonology service organization in different regions of Russia; -information on current protocols, standards and recommendations of international respiratory societies; -discussion and consequent publication Russian consensus documents and announcement of RRS activities; -publication and comments of regulatory documents of Russian Ministry of Health; -historical review of Russian pulmonology development. The scientific concept of the journal includes publication of current evidence-based studies on respiratory medicine and their discussion with the participation of Russian and foreign experts and development of national consensus documents on respiratory medicine. Russian and foreign respiratory specialists including pneumologists, TB specialists, thoracic surgeons, allergists, clinical immunologists, pediatricians, oncologists, physiologists, and therapeutists are invited to publish article in the journal.
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