Rumman Nisreen, Jackson Claire, Collins Samuel, Goggin Patricia, Coles Janice, Lucas Jane S
Pediatric Dept, Makassed Hospital, East Jerusalem, Palestine.
Academic Unit of Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
Eur Respir Rev. 2017 Jan 17;26(143). doi: 10.1183/16000617.0058-2016. Print 2017 Jan.
Primary ciliary dyskinesia is a genetic disease of ciliary function leading to chronic upper and lower respiratory tract symptoms. The diagnosis is frequently overlooked because the symptoms are nonspecific and the knowledge about the disease in the primary care setting is poor. Additionally, none of the available tests is accurate enough to be used in isolation. These tests are expensive, and need sophisticated equipment and expertise to analyse and interpret results; diagnosis is therefore only available at highly specialised centres. The diagnosis is particularly challenging in countries with limited resources due to the lack of such costly equipment and expertise.In this review, we discuss the importance of early and accurate diagnosis especially for countries where the disease is clinically prevalent but diagnostic tests are lacking. We review the diagnostic tests available in specialised centres (nasal nitric oxide, high-speed video microscopy, transmission electron microscopy, immunofluorescence and genetics). We then consider modifications that might be considered in less well-resourced countries whilst maintaining acceptable accuracy.
原发性纤毛运动障碍是一种导致慢性上、下呼吸道症状的纤毛功能遗传性疾病。由于症状不具特异性且基层医疗环境中对该疾病的了解不足，诊断常常被忽视。此外，现有的检测方法都不够准确，无法单独使用。这些检测费用高昂，需要精密设备和专业知识来分析和解读结果；因此，只有在高度专业化的中心才能进行诊断。由于缺乏此类昂贵的设备和专业知识，在资源有限的国家，诊断尤其具有挑战性。在本综述中，我们讨论了早期准确诊断的重要性，特别是对于那些该疾病临床普遍存在但缺乏诊断检测方法的国家。我们回顾了专业中心可用的诊断检测方法（鼻一氧化氮、高速视频显微镜检查、透射电子显微镜检查、免疫荧光和遗传学检测）。然后，我们考虑了在资源较匮乏的国家可能进行的改进，同时保持可接受的准确性。
