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[原发性纤毛运动障碍——多学科诊断与治疗]

[Primary Ciliary Dyskinesia - Interdisciplinary Diagnostics and Therapy].

作者信息

Hackenberg Stephan, Scherzad Agmal

出版信息

Laryngorhinootologie. 2020 May;99(5):326-337. doi: 10.1055/a-1074-4694. Epub 2020 May 8.

Abstract

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease. First respiratory symptoms already occur within the first hours after birth. Major symptoms are an unexplained neonatal respiratory distress syndrome, situs inversus, persistant cough, and chronic nasal congestion, recurrent paranasal sinus disorders with or without polyps, bronchiectasis as well as male infertility. Diagnostics is complex and includes transmission electron microscopy, nasal NO assessment, high-speed video microscopy and genetic evaluations. This review gives an overview over the current diagnostic procedures and therapeutic options. The management of PCD is a multidisciplinary approach, which should be reserved to in highly specialized centers.

摘要

原发性纤毛运动障碍(PCD)是一种基因异质性疾病。出生后数小时内就会出现最初的呼吸道症状。主要症状包括不明原因的新生儿呼吸窘迫综合征、内脏反位、持续性咳嗽、慢性鼻塞、伴有或不伴有息肉的复发性鼻窦疾病、支气管扩张以及男性不育。诊断较为复杂,包括透射电子显微镜检查、鼻一氧化氮评估、高速视频显微镜检查和基因评估。本综述概述了当前的诊断程序和治疗选择。PCD的管理是一种多学科方法,应在高度专业化的中心进行。

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