Accuracy of diagnostic testing in primary ciliary dyskinesia
Accuracy of diagnostic testing in primary ciliary dyskinesia
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DOI：
10.1183/13993003.00749-2015
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发表时间：
2016-03-01
影响因子：
24.3
通讯作者：
Lucas, Jane S.
中科院分区：
文献类型：
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作者：
Jackson, Claire L.;Behan, Laura;Lucas, Jane S.
原发性纤毛运动障碍（PCD）的诊断缺乏“金标准”测试，因此基于鼻一氧化氮（nNO）、高速视频显微镜分析（HSVMA）、基因分型和透射电子显微镜（TEM）等测试的组合。关于这种方法准确性的公开数据很少。使用前瞻性收集的654例连续PCD诊断患者的数据，我们计算了单独和联合检测策略的敏感性和特异性。并不是所有的病人都接受了所有的检查。HSVMA具有良好的敏感性和特异性（分别为100%和93%）。透射电镜100%特异，但21%的PCD患者超微结构正常。nNO （30 nL）Min (-1) cut-off具有良好的敏感性和特异性（分别为91%和96%）。HSVMA和TEM同时检测灵敏度为100%，特异度为92%。综上所述，联合检测是诊断PCD的一种非常准确的方法。HSVMA单独具有极好的准确性，但需要大量的专业知识，并且经常需要重复采样或细胞培养。单独的TEM是特异的，但漏诊了21%的病例。nNO (
Diagnosis of primary ciliary dyskinesia (PCD) lacks a "gold standard" test and is therefore based on combinations of tests including nasal nitric oxide (nNO), high-speed video microscopy analysis (HSVMA), genotyping and transmission electron microscopy (TEM). There are few published data on the accuracy of this approach.Using prospectively collected data from 654 consecutive patients referred for PCD diagnostics we calculated sensitivity and specificity for individual and combination testing strategies. Not all patients underwent all tests.HSVMA had excellent sensitivity and specificity (100% and 93%, respectively). TEM was 100% specific, but 21% of PCD patients had normal ultrastructure. nNO (30 nL.min(-1) cut-off) had good sensitivity and specificity (91% and 96%, respectively). Simultaneous testing using HSVMA and TEM was 100% sensitive and 92% specific.In conclusion, combination testing was found to be a highly accurate approach for diagnosing PCD. HSVMA alone has excellent accuracy, but requires significant expertise, and repeated sampling or cell culture is often needed. TEM alone is specific but misses 21% of cases. nNO (