Respiratory, Critical Care and Anaesthesia, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Children's Hospital & NIHR Great Ormond Street Hospital Biomedical Research Centre, 30 Guilford Street, London, WC1N 1EH, UK.
Department of Infection, Centre for PCD Diagnosis and Research, Immunity and Inflammation, RKCSB, University of Leicester, Leicester, LE2 7LX, UK.
Respir Res. 2018 Jun 25;19(1):125. doi: 10.1186/s12931-018-0782-3.
Primary ciliary dyskinesia can result from a number of different ciliary defects that adversely affect ciliary function resulting markedly reduced or absent mucociliary clearance. Improvement in diagnostic testing is an area of current research. During diagnostic evaluation of PCD we observed ciliated conical protrusions from part of the apical surface of ciliated cells in those diagnosed with PCD. The aim of this study was to investigate if this abnormality was specific to PCD.
Epithelial edges from 67 consecutively diagnosed PCD patients, 67 patients consecutively referred for PCD diagnostic testing in whom PCD was excluded, 22 with asthma and 18 with Cystic Fibrosis (CF) were studied retrospectively in a blinded manner using light microscopy.
Forty six out of 67 patients with PCD had ciliated conical epithelial protrusions, whereas none were seen in patients where PCD was excluded, or in patients with asthma or CF. The sensitivity, specificity, positive predictive value and negative predictive value for the presence of the ciliated conical protrusions to predict a diagnosis of PCD were 76.5, 100, 100 and 77% respectively.
Characteristic ciliated conical protrusions from ciliated epithelial cells maybe a useful pointer to the diagnosis of PCD. However, their absence does not exclude the diagnosis of PCD.
原发性纤毛运动障碍可由多种不同的纤毛缺陷引起，这些缺陷会对纤毛功能产生不利影响，导致黏液纤毛清除功能明显减弱或丧失。目前的研究重点是改进诊断检测。在对 PCD 的诊断评估中，我们观察到部分诊断为 PCD 的患者的纤毛细胞顶表面有纤毛锥形突起。本研究旨在探讨这种异常是否是 PCD 所特有的。
我们对 67 例连续诊断为 PCD 的患者、67 例连续转诊进行 PCD 诊断检测但排除 PCD 的患者、22 例哮喘患者和 18 例囊性纤维化（CF）患者的上皮边缘进行回顾性研究，采用盲法进行了光镜检查。
46 例 PCD 患者中有纤毛锥形上皮突起，而在排除 PCD 的患者、哮喘患者或 CF 患者中则未见这种突起。纤毛锥形突起存在对预测 PCD 诊断的敏感性、特异性、阳性预测值和阴性预测值分别为 76.5%、100%、100%和 77%。
纤毛细胞的特征性纤毛锥形突起可能是 PCD 诊断的有用指标。然而，其不存在并不能排除 PCD 的诊断。
