原发性纤毛运动障碍的定量透射电子显微镜诊断 20 年回顾。

Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia.

机构信息

Royal Brompton and Harefield NHS Trust, London, UK.

出版信息

J Clin Pathol. 2012 Mar;65(3):267-71. doi: 10.1136/jclinpath-2011-200415. Epub 2011 Dec 1.

DOI:10.1136/jclinpath-2011-200415

PMID:22135026

Abstract

BACKGROUND

The examination of ciliary ultrastructure in a nasal sample remains a definitive diagnostic test for primary ciliary dyskinesia (PCD).

METHODS

The quantitative assessment of ciliary ultrastructure in the diagnosis of PCD over a 20-year period was reviewed.

RESULTS

During this period, 1182 patients were referred for ciliary ultrastructural analysis, 242 (20%) of whom were confirmed as having the disease. The two main causes of PCD identified were a lack of outer dynein arms (43%) and a lack of both inner and outer dynein arms (24%). Other causes included transposition, radial spoke and inner dynein arm defects. No specific ultrastructural defects were detected in 33 patients (3%) diagnosed as having PCD on the basis of their clinical features and screening tests that included a low nasal nitric oxide concentration or slow saccharine clearance and abnormal ciliary beat frequency or pattern.

CONCLUSIONS

Electron microscopy analysis can confirm but does not always exclude a diagnosis of PCD.

摘要

背景

对鼻样本中的纤毛超微结构进行检查仍然是原发性纤毛运动障碍（PCD）的明确诊断测试。

方法

回顾了 20 年来在 PCD 诊断中对纤毛超微结构进行定量评估的情况。

结果

在此期间，有 1182 名患者被转介进行纤毛超微结构分析，其中 242 名（20%）被确诊患有该疾病。确定的 PCD 的两个主要原因是缺乏外动力蛋白臂（43%）和缺乏内外动力蛋白臂（24%）。其他原因包括转位、放射辐条和内动力蛋白臂缺陷。在根据临床表现和包括低鼻一氧化氮浓度或蔗糖清除率缓慢以及纤毛摆动频率或模式异常的筛查试验诊断为 PCD 的 33 名患者中，未发现特定的超微结构缺陷。