先天性纖毛運動異常症

Primary Ciliary Dyskinesia

牛震廣(Chen-Kuang Niu) ； 蘇有村(Yu-Tsun Su)

《中華民國兒童胸腔醫學會雜誌》 4卷1期 (2003/08) Pp. 49-55

https://doi.org/10.6322/JPRD.200308_4(1).0007

摘要

先天性纖毛運動異常症（primary ciliary dyskinesia, PCD），發生率約為1/20000，主要是以自體隱性遺傳為主。先天性纖毛構造或功能異常導致反覆的呼吸道問題（鼻竇炎，中耳炎，支氣管擴張症），男性不孕及女性的子宮外孕。症狀大多由新生兒時期開始，而且隨年齡增長而有其他症狀出現。當病症出現而且排除其他常見原因，例如immunodeficiency及cystic fibrosis時，就需高度懷疑PCD的可能性。篩選PCD可靠代糖測驗，一氧化氮（NO） 呼出測驗，纖毛擺動頻率評估測驗，最後再靠電子顯微鏡確定診斷。早期診斷及適當治療可減少支氣管擴張症的發生，並且避免不需要的耳鼻喉科手術。此篇文章將就臨床表現，診斷及處理作一概述。

關鍵字

先天性纖毛運動異常症

並列摘要

Primary ciliary dyskinesia (PCD) is an autosomal recessive disease with a low prevalence of 1 in 20000. The congenital defects of cilia can cause recurrent respiratory problems (sinusitis, otitis media, bronchiectasis), male infertility and female atopic pregnancy. The symptoms of PCD usually start in the neonatal period and have age-related differences. These symptoms hint physician the impression of PCD when other causes, such as immunodeficiency or cystic fibrosis, has been excluded. The diagnosis of PCD is screened by saccharin test, exhaled nasal NO, ciliary beat frequency and finally made by electron microscopy. Early diagnosis and appropriate management decrease the morbidity of bronchiectasis and avoid unnecessary otorhinolaryngeal procedure. Specialist should regularly follow patients. This paper updates the clinic manifestation, diagnosis and management of PCD.

並列關鍵字

primary ciliary dyskinesia