Department of Respiratory and Critical Care Medicine, The Third Affiliated Hospital of Southern Medical University, Guangzhou, China.
J Paediatr Child Health. 2022 Oct;58(10):1736-1740. doi: 10.1111/jpc.16196. Epub 2022 Sep 7.
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.
原发性纤毛运动障碍（PCD）是一种常染色体隐性遗传疾病，其特征是运动性纤毛功能障碍。主要表现为支气管扩张、慢性鼻窦炎和 situs inversus（内脏转位三联征）。此外，它还可以表现为男性不育和女性异位妊娠。然而，目前还没有公认的 PCD 诊断标准，这给其诊断和治疗带来了很大的挑战。除了临床数据外，目前 PCD 的诊断方法主要包括 PICADAR、鼻呼气一氧化氮、透射电子显微镜、高分辨率免疫荧光、高速视频显微镜分析和基因检测。本文对上述诊断方法进行了全面比较，并提出遗传检测技术将成为 PCD 诊断的主流趋势。
