Progress in diagnosis of primary ciliary dyskinesia

Shuna Wei; Haojun Xie; Yuanxiong Cheng

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Progress in diagnosis of primary ciliary dyskinesia

机译：Progress in diagnosis of primary ciliary dyskinesia

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Primary ciliary dyskinesia (PCD) is an autosomal recessive genetic disorder characterised by motor ciliary dysfunction. The main manifestations are bronchiectasis, chronic sinusitis and situs inversus (viscera translocation triad). Additionally, it can present as male infertility and female ectopic pregnancy. However, there is currently no recognised diagnostic standard for PCD, which brings great challenges to its diagnosis and treatment. In addition to clinical data, the current diagnostic methods of PCD mainly include PICADAR, nasal exhaled nitric oxide, transmission electron microscopy, high‐resolution immunofluorescence, high‐speed video microscopy analysis and gene detection. This article makes a comprehensive comparison of the above diagnostic methods and suggests that genetic detection technology will become the general trend of PCD diagnosis.

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《Journal of paediatrics and child health.》 |2022年第10期|1736-1740|共5页
作者
Shuna Wei; Haojun Xie; Yuanxiong Cheng;
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作者单位

Department of Respiratory and Critical Care Medicine,The Third Affiliated Hospital of Southern;

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正文语种英语
中图分类儿科学;
关键词
gene therapy; immunofluorescence; nasal exhaled nitric oxide; primary ciliary dyskinesia; transmission electron microscopy;

Progress in diagnosis of primary ciliary dyskinesia

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