疑似原发性纤毛运动障碍患者的诊断性检测。

Diagnostic testing of patients suspected of primary ciliary dyskinesia.

机构信息

Division of Child Health, Department of Infection, Immunity, and Inflammation, and Institute of Lung Health, University of Leicester, and Leicester Royal Infirmary, Leicester, United Kingdom.

出版信息

Am J Respir Crit Care Med. 2010 Feb 15;181(4):307-14. doi: 10.1164/rccm.200903-0459OC. Epub 2009 Nov 12.

DOI:10.1164/rccm.200903-0459OC

PMID:19910612

Abstract

RATIONALE

Electron microscopy (EM) of ciliated epithelium is widely used to diagnose primary ciliary dyskinesia (PCD). Ciliary beat frequency (CBF) has been used to screen samples to determine whether EM is indicated. Beat pattern analysis has been advocated as an additional diagnostic test. Neither has been subject to formal review.

OBJECTIVES

To determine the ability of CBF and beat pattern analysis to predict EM-diagnosed PCD.

METHODS

CBF calculation and beat pattern analysis, using high-speed video microscopy, and EM were performed on nasal tissue from 371 patients consecutively referred to the Leicester Royal Infirmary for diagnostic assessment for PCD. With EM as the "gold standard," receiver operating characteristic (ROC) curves were constructed and sensitivity, specificity, and positive (PPV) and negative (NPV) predictive values were calculated for CBF less than 11 Hz, ciliary dyskinesia score equal to or exceeding 2, at least 90% of ciliated edges beating dyskinetically, and an immotility index equal to or exceeding 10%.

MEASUREMENTS AND MAIN RESULTS

PCD was excluded in 270 patients and confirmed in 70 by EM. The sensitivity, specificity, PPV, and NPV for CBF less than 11 Hz were 87.1, 77.2, 50.0, and 95.8%, respectively. These values were higher for ciliary dyskinesia scores equal to or exceeding 2 (92.5, 97.6, 91.2, and 98.0%) and when at least 90% of ciliated edges were dyskinetic (97.1, 95.3, 84.6, and 99.2%). ROCs confirmed that the ciliary dyskinesia score and percentage of dyskinetic edges were superior screening indices compared with CBF and the immotility index.

CONCLUSIONS

The use of CBF alone to screen which biopsies should have EM will result in a significant number of missed diagnoses. Ciliary beat pattern analysis is a more sensitive and specific test for PCD with higher PPV and NPV.

摘要

原理

电子显微镜（EM）在诊断原发性纤毛运动障碍（PCD）中被广泛应用。纤毛摆动频率（CBF）已被用于筛选样本，以确定是否需要进行 EM 检查。拍动模式分析也被提倡作为额外的诊断测试。这两种方法都没有经过正式审查。

目的

确定 CBF 和拍动模式分析对预测 EM 诊断为 PCD 的能力。

方法

对连续转介到莱斯特皇家医院进行 PCD 诊断评估的 371 名患者的鼻组织进行 CBF 计算和使用高速视频显微镜进行拍动模式分析，以及 EM 检查。以 EM 为“金标准”，构建受试者工作特征（ROC）曲线，并计算 CBF 小于 11 Hz、纤毛运动障碍评分等于或大于 2、至少 90%纤毛边缘运动障碍以及运动指数等于或大于 10%的灵敏度、特异性、阳性（PPV）和阴性（NPV）预测值。

测量和主要结果

270 例患者排除 PCD，70 例患者 EM 确诊。CBF 小于 11 Hz 的灵敏度、特异性、PPV 和 NPV 分别为 87.1%、77.2%、50.0%和 95.8%。当纤毛运动障碍评分等于或大于 2（92.5%、97.6%、91.2%和 98.0%）和至少 90%的纤毛边缘运动障碍（97.1%、95.3%、84.6%和 99.2%）时，这些值更高。ROC 证实，纤毛运动障碍评分和运动障碍纤毛边缘百分比是比 CBF 和不动指数更好的筛选指标。