原发性纤毛运动障碍的年轻女性:从儿科到成人网络的挑战过渡的病例报告

Q4 Medicine
A. V. Zinchenko, T. Gembitskaya, I. Bondarenko
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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常染色体隐性遗传病,与上皮纤毛超微结构缺陷有关。目前,诊断PCD没有标准的方法,所以诊断是基于临床表现和测试结果,如DNA诊断、鼻一氧化氮测量、鼻活检中纤毛搏动频率、纤毛超微结构等。由于呼吸道上皮的继发性损伤,PCD的诊断可能很困难,这通常导致未确诊或假阳性病例。对形成广泛支气管扩张(BE)和上呼吸道病变的疾病,特别是囊性纤维化(CF)的鉴别诊断是必要的。本文的目的是介绍诊断的困难,在很长一段时间内临床,实验室和仪器特征的适当细节水平,以及对PCD患者的护理组织。本文描述了一名17岁确诊的年轻女性PCD的临床病例,介绍了处理这类患者的困难和典型错误,以及缺乏儿科医生-肺科医生护理的连续性。本临床病例显示PCD的诊断是多么困难。这样的病人需要一个复杂的检查,一个彻底的鉴别诊断,以排除其他疾病与类似的临床表现。长期随访由一个多学科小组进行,并进行强制性微生物监测。对患者的有组织的护理应从儿童早期开始,并在成年后继续进行适当的护理和随访,由肺科医生,最好是在专门的中心。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Primary ciliary dyskinesia in a young woman: case report with challenged transition from pediatrics to adult network
Primary ciliary dyskinesia (PCD) is a rare genetic autosomal recessive disease associated with a defect in the ultrastructure of epithelial cilia. Currently, there is no standard method for diagnosing PCD, so the diagnosis is based on the clinical picture and the results of tests, such as DNA diagnostics, nasal nitric oxide measurements, ciliary beat frequency in a nasal biopsy, ciliary ultrastructure, etc. Diagnosis of PCD can be difficult due to secondary damage to the respiratory epithelium, which often results in undiagnosed or false positive cases. Differential diagnosis with diseases forming widespread bronchiectasis (BE) and upper respiratory tract lesions, especially with cystic fibrosis (CF), is necessary.The aim of this paper is to introduce the difficulties of diagnosis, the appropriate level of detail of the clinical, laboratory and instrumental characteristics over a long period of time, and the organization of care for a patient with PCD. This article describes a clinical case of PCD in a young woman, diagnosed at the age of 17, presents the difficulties and typical mistakes in the management of such patients, and the lack of succession of pediatrician-pulmonologist care.Conclusion. The presented clinical case demonstrates how difficult the diagnosis of PCD is. Such patients need a complex examination, a thorough differential diagnosis to exclude other diseases with a similar clinical picture. Long-term follow-up is carried out by a multidisciplinary team with mandatory microbiological monitoring. The organized care for patients should begin in early childhood and continue in adulthood with proper succession of care and follow-up by of pulmonologist, preferably in specialized centers.
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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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