Schreck Leonie Daria, Pedersen Eva Sophie Lunde, Cizeau Isabelle, Müller Loretta, Kruljac Catherine, Lucas Jane S, Goutaki Myrofora, Kuehni Claudia E
Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
Graduate School for Health Sciences, University of Bern, Bern, Switzerland.
PLOS Glob Public Health. 2023 Sep 11;3(9):e0001522. doi: 10.1371/journal.pgph.0001522. eCollection 2023.
Diagnostic tests are important in primary ciliary dyskinesia (PCD), a rare disease, to confirm the diagnosis and characterize the disease. We compared diagnostic tests for PCD between countries worldwide, assessed whether people with PCD recall their tests, and identified factors associated with the use of tests. We used cross-sectional data from COVID-PCD-an international participatory cohort study collecting information directly from people with PCD. The baseline questionnaire inquired about tests used for PCD diagnosis. Using logistic regression, we investigated factors associated with measurement of nasal nitric oxide (nNO), biopsy for electron or video microscopy, and genetic testing. We included data from 747 participants (60% females) from 49 countries worldwide with median age 27 (interquartile range 12-44). Most (92%) reported diagnostic tests for PCD. Participants reported measurements of nNO (342; 49%), biopsy samples (561; 75%), and genetic tests (435; 58%). The reported use of individual tests, such as genetics, varied between countries from 38% in Switzerland to 68% in North America. Participant recall of test type also differed between countries with lowest recall in Switzerland. One-third (232; 36%) of participants reported all three tests (nNO, biopsy, and genetics). Recently diagnosed people reported more tests [nNO odds ratio (OR) 2.2, 95% Confidence Interval (CI) 1.5-3.2; biopsy OR 3.2, 95%CI 2.1-4.9; genetics OR 4.7, 95%CI 3.2-6.9] and those with situs abnormalities fewer tests (nNO OR 0.5, 95%CI 0.4-0.7; biopsy OR 0.5, 95%CI 0.4-0.8; genetics OR 0.7, 95%CI 0.5-0.94). Our results indicate PCD diagnostic testing differed widely around the world and many patients received incomplete diagnostic work-up based only on clinical features or single tests. People diagnosed long ago and those with situs abnormalities possibly benefit from supplementary testing to refine their diagnosis as a prerequisite for personalized medicine.
诊断测试对于原发性纤毛运动障碍（PCD）这种罕见疾病很重要，有助于确诊和明确疾病特征。我们比较了全球各国针对PCD的诊断测试，评估了PCD患者是否记得他们所做的测试，并确定了与测试使用相关的因素。我们使用了来自COVID-PCD的横断面数据，这是一项国际参与性队列研究，直接从PCD患者那里收集信息。基线调查问卷询问了用于PCD诊断的测试。我们使用逻辑回归分析，研究了与鼻一氧化氮（nNO）测量、电子或视频显微镜活检以及基因检测相关的因素。我们纳入了来自全球49个国家的747名参与者（60%为女性）的数据，年龄中位数为27岁（四分位间距为12 - 44岁）。大多数（92%）报告进行了PCD诊断测试。参与者报告进行了nNO测量（342人；49%）、活检样本采集（561人；75%）和基因检测（435人；58%）。各国报告的个体测试使用情况，如基因检测，差异较大，从瑞士的38%到北美的68%不等。各国参与者对测试类型的回忆也有所不同，瑞士的回忆率最低。三分之一（232人；36%）的参与者报告进行了所有三项测试（nNO、活检和基因检测）。最近确诊的患者报告进行的测试更多[nNO优势比（OR）为2.2，95%置信区间（CI）为1.5 - 3.2；活检OR为3.2，95%CI为2.1 - 4.9；基因检测OR为4.7，95%CI为3.2 - 6.9]，而有内脏反位异常的患者报告进行的测试较少（nNO OR为0.5，95%CI为0.4 - 0.7；活检OR为0.5，95%CI为0.4 - 0.8；基因检测OR为0.7，95%CI为0.5 - 0.94）。我们的结果表明，全球范围内PCD诊断测试差异很大，许多患者仅基于临床特征或单项测试接受了不完整的诊断检查。很久以前被诊断出的患者以及有内脏反位异常的患者可能会从补充测试中受益，以完善他们的诊断，这是个性化医疗的前提条件。
