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

【摘要】：原發(fā)性纖毛不動(dòng)綜合征(PCD)是一種常染色體隱性或性染色體相關(guān)的遺傳疾病,需要結(jié)合患者的臨床表現(xiàn)及多種檢測(cè)手段進(jìn)行診斷。其中鼻呼出氣一氧化氮檢測(cè)、高頻數(shù)字視頻成像、透射電鏡和基因檢測(cè)是國(guó)際指南推薦的檢測(cè)手段,然而由于復(fù)雜的檢測(cè)設(shè)備難以普及,往往對(duì)PCD的診治造成延誤。在目前對(duì)PCD的診斷中,免疫熒光染色法(IF)的應(yīng)用日益受到重視,該方法通過(guò)對(duì)纖毛結(jié)構(gòu)的特異性標(biāo)志物進(jìn)行染色,間接檢測(cè)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(duì)PCD的診斷方法進(jìn)行概述,并著重介紹IF在PCD診斷中的應(yīng)用進(jìn)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(xué)研究生學(xué)院;廣東省人民醫(yī)院 廣東省醫(yī)學(xué)科學(xué)院耳鼻咽喉頭頸外科;鄭州大學(xué)附屬第一醫(yī)院耳鼻咽喉頭頸外科;南方醫(yī)科大學(xué)珠江醫(yī)院耳鼻咽喉科;
【分類號(hào)】：R596

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相關(guān)期刊論文 前1條

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

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本文編號(hào)：1651876