原发性睫状肌运动障碍的分类

Q4 Medicine
E. Kondratyeva, S. Avdeev, T. A. Kyian, Y. Mizernitskiy
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In the new edition of ICD-11, the code LA75.Y is highlighted – Other specified structural abnormalities of the lungs.Primary ciliary dyskinesia. However, there is no generally accepted classification of PCD. The aim of the study was to develop a classification of primary ciliary dyskinesias to improve the efficiency of medical care for patients during follow-up.Methods. European and Russian clinical recommendations, as well as ICD 10th and 11th revision, Classification of Respiratory Insufficiency (2020), Order of 27.08.19 No.585n “On classifications and criteria used in the implementation of medical and social expert assessment of citizens by federal state institutions of medical and social expert assessment” (as amended on 06.10.21) were used to create the classification.Results. The classification of PCD was created and can be recommended for use in clinical practice. The classification was based on the presence or absence of the Sievert – Kartagener syndrome (complete, not complete), as well as clinical and instrumental characterization of bronchopulmonary changes based on the presence of chronic obstructive bronchitis, bronchiectasis (specifying the type and localization), pneumofibrosis with the process activity (exacerbation, remission), and the degree of respiratory failure. It is recommended to take into account extrapulmonary manifestations of PCD, such as rhinosinusitis, media otitis, congenital heart defect, and complications. It is recommended to use the PICADAR (PrImary CiliAry DyskinesiA Rule) score and to include the results of video microscopy, DNA diagnosis, and microbiological examination in the diagnosis.Conclusion. 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引用次数: 0

摘要

原发性睫状肌运动障碍(PCD)是一种罕见的遗传性疾病,属于纤毛疾病,具有广泛的基因位点和等位基因异质性(ORPHA 244,98861;OMIM 242650,244000)。该病为常染色体显性遗传或常染色体隐性遗传,也有少数为 X 连锁遗传(OMIM 300424)。视网膜色素变性发生于 X 连锁 PCD 变异型。根据欧洲的数据,全球 PCD 的总发病率最低为 1:7554。在国际疾病分类(ICD)第 10 次修订版中,没有公认的 PCD 分类。在 ICD-10 中,PCD 并未作为一个独立的医学实体出现,而是使用 Q32.4 - 其他先天性支气管异常代码进行编码。在新版 ICD-11 中,代码 LA75.Y 被突出显示--其他特定的肺部结构异常--原发性睫状肌运动障碍。然而,目前尚无公认的 PCD 分类。本研究旨在制定原发性睫状肌运动障碍的分类方法,以提高随访期间对患者的医疗护理效率。方法:根据欧洲和俄罗斯的临床建议,以及《国际疾病分类》第 10 版和第 11 版修订版、《呼吸功能不全分类》(2020 年)、19 年 8 月 27 日第 585n 号命令《关于联邦国家医疗和社会专家评估机构对公民实施医疗和社会专家评估时使用的分类和标准》(21 年 10 月 6 日修订),制定该分类。PCD 的分类方法已经制定,可推荐在临床实践中使用。该分类法基于是否存在 Sievert - Kartagener 综合征(完全、不完全),以及支气管肺部病变的临床和器械特征,其基础是是否存在慢性阻塞性支气管炎、支气管扩张(明确类型和定位)、肺纤维化的过程活动(加重、缓解)以及呼吸衰竭的程度。建议考虑 PCD 的肺外表现,如鼻炎、中耳炎、先天性心脏缺陷和并发症。建议使用 PICADAR(PrImary CiliAry DyskinesiA Rule)评分,并将视频显微镜检查、DNA 诊断和微生物检查结果纳入诊断。应用所提出的分类方法有助于对患者进行动态观察、治疗以及进行医疗和社会专家评估。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Classification of primary ciliary dyskinesia
Primary ciliary dyskinesia (PCD) is a rare hereditary disease from the group of ciliopathies with extensive locus and allelic heterogeneity (ORPHA 244, 98861; OMIM 242650, 244000). This disease is inherited by autosomal dominant or autosomal recessive type and, less often, by X-linked type (OMIM 300424). Retinitis pigmentosa develops in the X-linked PCD variant. The overall minimum global prevalence of PCD according to European data is 1 : 7554. There is no generally accepted classification of PCD in the international classification of diseases (ICD), 10th revision. PCD is not presented in ICD-10 as a separate medical entity, and the code Q32.4 – Other congenital bronchial anomalies – is used for coding. In the new edition of ICD-11, the code LA75.Y is highlighted – Other specified structural abnormalities of the lungs.Primary ciliary dyskinesia. However, there is no generally accepted classification of PCD. The aim of the study was to develop a classification of primary ciliary dyskinesias to improve the efficiency of medical care for patients during follow-up.Methods. European and Russian clinical recommendations, as well as ICD 10th and 11th revision, Classification of Respiratory Insufficiency (2020), Order of 27.08.19 No.585n “On classifications and criteria used in the implementation of medical and social expert assessment of citizens by federal state institutions of medical and social expert assessment” (as amended on 06.10.21) were used to create the classification.Results. The classification of PCD was created and can be recommended for use in clinical practice. The classification was based on the presence or absence of the Sievert – Kartagener syndrome (complete, not complete), as well as clinical and instrumental characterization of bronchopulmonary changes based on the presence of chronic obstructive bronchitis, bronchiectasis (specifying the type and localization), pneumofibrosis with the process activity (exacerbation, remission), and the degree of respiratory failure. It is recommended to take into account extrapulmonary manifestations of PCD, such as rhinosinusitis, media otitis, congenital heart defect, and complications. It is recommended to use the PICADAR (PrImary CiliAry DyskinesiA Rule) score and to include the results of video microscopy, DNA diagnosis, and microbiological examination in the diagnosis.Conclusion. The application of the proposed classification can be useful in the dynamic observation of the patient, therapy and in the conduct of medical and social expert assessment.
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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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