發(fā)布時間：2018-03-23 04:20

  本文選題：原發(fā)性纖毛不動綜合征　切入點：診斷　出處：《解放軍醫(yī)學雜志》2017年10期 　論文類型：期刊論文

【摘要】：原發(fā)性纖毛不動綜合征(PCD)是一種常染色體隱性或性染色體相關的遺傳疾病,需要結(jié)合患者的臨床表現(xiàn)及多種檢測手段進行診斷。其中鼻呼出氣一氧化氮檢測、高頻數(shù)字視頻成像、透射電鏡和基因檢測是國際指南推薦的檢測手段,然而由于復雜的檢測設備難以普及,往往對PCD的診治造成延誤。在目前對PCD的診斷中,免疫熒光染色法(IF)的應用日益受到重視,該方法通過對纖毛結(jié)構(gòu)的特異性標志物進行染色,間接檢測纖毛結(jié)構(gòu)是否存在異常,具有較高的特異性,在PCD的早期篩查和輔助診斷等方面具有巨大潛力。本文針對PCD的診斷方法進行概述,并著重介紹IF在PCD診斷中的應用進展。
[Abstract]:Primary ciliary immobility syndrome (PCD) is an autosomal recessive or sex-chromosome related genetic disease, which needs to be diagnosed by combining the clinical manifestations of patients with PCD. High-frequency digital video imaging, transmission electron microscopy and gene detection are the methods recommended by international guidelines. However, because of the difficulty in popularizing complex detection equipment, the diagnosis and treatment of PCD is often delayed. The application of immunofluorescence staining (IFF) has been paid more and more attention. By staining the specific markers of cilium structure, the method indirectly detects whether there are abnormalities in cilium structure and has a high specificity. There is great potential in the early screening and auxiliary diagnosis of PCD. This paper summarizes the diagnostic methods of PCD and emphatically introduces the application of if in PCD diagnosis.
【作者單位】： 南方醫(yī)科大學研究生學院;廣東省人民醫(yī)院 廣東省醫(yī)學科學院耳鼻咽喉頭頸外科;鄭州大學附屬第一醫(yī)院耳鼻咽喉頭頸外科;南方醫(yī)科大學珠江醫(yī)院耳鼻咽喉科;
【分類號】：R596

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1 李巍;;先天性纖毛不動綜合征是否遺傳而來?[J];遺傳;2007年08期

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本文編號：1651876