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.
Keywords: gene therapy; immunofluorescence; nasal exhaled nitric oxide; primary ciliary dyskinesia; transmission electron microscopy.
© 2022 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).