Progress in diagnosis of primary ciliary dyskinesia. (7th September 2022)

• Record Type: Journal Article
• Authors: Wei, Shuna; Xie, Haojun; Cheng, Yuanxiong
• Is Part Of: Journal of paediatrics and child health. Volume 58:Number 10(2022)
• Page Start: 1736
• Page End: 1740
• Publication Date: 2022-09-07
• Subjects: gene therapy -- immunofluorescence -- nasal exhaled nitric oxide -- primary ciliary dyskinesia -- transmission electron microscopy; Children -- Health and hygiene -- Periodicals; Pediatrics -- Periodicals; 618.92
• DOI: 10.1111/jpc.16196
• Languages: English
• ISSNs: 1034-4810

Abstract

Abstract : 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.