原发性纤毛运动障碍患者的特点

Q4 Medicine

Pulmonologiya Pub Date : 2023-04-13 DOI:10.18093/0869-0189-2023-33-2-198-209

E. Nikolaeva, D. Ovsyannikov, V. A. Strel’nikova, D. Polyakov, T. V. Tronza, O. Karpova, I. R. Fatkhullina, Е. E. Bragina, O. Shchagina, M. Starinova, S. Krasovskiy, T. A. Kyian, E. Zhekaite

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引用次数: 1

摘要

原发性纤毛运动障碍(PCD)是一种罕见的遗传性疾病，它是基于呼吸道纤毛上皮超微结构缺陷导致的运动功能障碍。关于俄罗斯联邦PCD患者健康特征的数据是不完整的。本研究的目的是探讨前列腺癌患者的临床、实验室和仪器特征。研究了来自多个医疗中心的90例患者的资料，其中成人22例(24.4%)，儿童68例(75.6%)。方法:病史、肺活量测定、呼吸道微生物学检查、鼻黏膜纤毛上皮功能活性视频显微镜分析、纤毛上皮透射电镜及DNA检测。成人诊断时的中位年龄为17.0岁，儿童为5.0岁。检出卡塔赫纳综合征23例(27%)，其中成人6例(26.0%)。5例(26.3%)成人患者和15例(26.8%)儿童患者出现听力损失。对14例(82.3%)儿童和3例(17.7%)成人纤毛上皮进行了光镜检查。在12例患者中，纤毛运动活动在每次放大(x 100、x 400、x 1000)时均未被记录。透射电镜显示，内外动力蛋白柄缺失(51%)和内动力蛋白柄缺失(17.9%)是最常见的疾病。55例(61.2%)患者进行了DNA检测:成人16例(29.1%)，儿童38例(70.9%)。最常见的遗传变异是DNAH5和HYDIN基因。成人和儿童的肺功能均下降，但成人患者的肺功能明显下降。铜绿假单胞菌在培养中占主导地位，占21.3%(间歇检测占13.2%，持续检测占9%)。它增加了对抗生素的耐药性。结果与欧洲的数据相关联。铜绿假单胞菌引起的感染在PCD患者中普遍存在，对抗生素的耐药性增加。

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Characteristics of patients with primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) (Online Mendelian Inheritance in Man - OMIM - #242650) is a rare hereditary disease, which is based on a defect in the ultrastructure of the cilia epithelium of the respiratory tract which leads to the motor function disorder. Data about health characteristics of patients with PCD in the Russian Federation are incomplete.The aim of the study was to investigate the clinical, laboratory, and instrumental characteristics of patients with PCD.Methods. The data of 90 patients (22 adults (24.4%) and 68 children (75.6%)) from several medical centers were studied. The following methods were used: medical history, spirometry, microbiological examination of the respiratory tract, video microscopic analysis of the functional activity of the nasal mucosa ciliated epithelium, transmission electron microscopy of the ciliated epithelium, and DNA testing.Results. The median age at diagnosis was 17.0 years for adults and 5.0 years for children. Kartagener syndrome was detected in 23 (27%) people, including 6 (26.0%) adults. Hearing loss was noted in 5 (26.3%) adult patients and 15 (26.8%) children. Light microscopy of the ciliated epithelium was performed in 14 (82.3%) children and 3 (17.7%) adults. In 12 patients, cilia motor activity was not registered at each of the magnifications (x 100, x 400, x 1,000). Transmission electron microscopy showed that absence ofinternal and external dynein handles (51%) and absence of internal dynein handles (17.9%) were the most common disorders. DNA testing was performed in 55 (61.2%) patients: 16 (29.1%) adults and 38 (70.9%) children. The most common genetic variants were found in the DNAH5 and HYDIN genes. Lung function was reduced in both adults and children, but a significant decrease was noted in adult patients. P. aeruginosa predominated in the culture and accounted for 21.3% (intermittent detection in 13.2%, persistent detection in 9%). It has increased resistance to antibiotics.Conclusion. The results correlate with the European data. Infection caused by P. aeruginosa with the increased resistance to antibiotics was prevalent in patienths with PCD.

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来源期刊

Pulmonologiya Medicine-Pulmonary and Respiratory Medicine

CiteScore

1.40

自引率

0.00%

发文量

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.