原发性纤毛运动障碍：病因、诊断和临床管理。

IF 3.6 4区医学 Q1 MEDICINE, GENERAL & INTERNAL

Clinical Medicine Pub Date : 2025-04-30 DOI:10.1016/j.clinme.2025.100319

Rachael Collison, Saara A Hyatali, Antoniya Kamenova, Adam Rashed, Dylan Riley, Kartik Kumar, Janet M Stowell, Michael R Loebinger

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引用次数: 0

摘要

原发性纤毛运动障碍（PCD）是一种罕见的遗传性疾病，其特征是纤毛运动功能异常。这种情况通常表现在生命早期，伴有新生儿窘迫、慢性肺疾病和器官侧侧障碍。在成人中，它是支气管扩张和生育能力低下的一个未被诊断的原因。这篇综述为临床医生提供了PCD的概述。我们讨论它的病因，它的表现，如何诊断和它的多学科临床管理。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Primary ciliary dyskinesia: Aetiology, diagnosis and clinical management.

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by abnormal function of motile cilia. The condition usually manifests in early life with neonatal distress, chronic sinopulmonary disease and organ laterality disorders. In adults, it is an underdiagnosed cause of bronchiectasis as well as subfertility. This review provides an overview of PCD for clinicians. We discuss its aetiology, its presentation, how it is diagnosed and its multidisciplinary clinical management.

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来源期刊

Clinical Medicine 医学-医学：内科

CiteScore

7.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Clinical Medicine is aimed at practising physicians in the UK and overseas and has relevance to all those managing or working within the healthcare sector. Available in print and online, the journal seeks to encourage high standards of medical care by promoting good clinical practice through original research, review and comment. The journal also includes a dedicated continuing medical education (CME) section in each issue. This presents the latest advances in a chosen specialty, with self-assessment questions at the end of each topic enabling CPD accreditation to be acquired. ISSN: 1470-2118 E-ISSN: 1473-4893 Frequency: 6 issues per year