Transmission Electron Microscopy in the Diagnosis of Primary Ciliary Dyskinesia
Transmission Electron Microscopy in the Diagnosis of Primary Ciliary Dyskinesia
复制标题
透射电子显微镜在原发性纤毛运动障碍诊断中的应用
DOI：
10.3109/2000-1967-010
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发表时间：
2006
影响因子：
3.4
通讯作者：
M. Johannesson
中科院分区：
文献类型：
--
作者：
G. Roomans;A. Ivanovs;E. Shebani;M. Johannesson
原发性睫状体运动障碍（PCD）是一种具有广泛遗传异质性的常染色体隐性遗传病。纤毛运动障碍或完全缺乏运动，易引起反复的肺部和上呼吸道感染，导致支气管扩张。由于耳咽管纤毛运动的缺乏，中耳感染也很常见。由于精子缺乏活力或输出小管异常，男性的生育能力下降。女性生育力低下和宫外孕倾向也被提出。头痛是PCD患者的常见症状，与脑室纤毛缺失有关，导致脑脊液循环减少。最后，一半的PCD患者有内脏逆位，可能是由于胚胎中Hensen结的纤毛运动的缺乏，这是胚胎背面液体单向流动的原因，这决定了侧位。PCD是一种先天性疾病，应与继发性纤毛运动障碍（SCD）这一获得性疾病相鉴别。透射电镜检查是诊断PCD最常用的方法，但也可考虑其他方法，如纤毛运动测定和呼出气一氧化氮（NO）测定。区分PCD和SCD的最佳方法是确定内、外动力蛋白臂的数目，这可以在有限数目的睫状体横截面上可靠地进行。PCD和SCD之间的纤毛方向（由通过中心微管对绘制的线的方向确定）也有显着差异，但值有一些重叠，使得该参数不太适合区分PCD和SCD。
Primary ciliary dyskinesia (PCD) is an autosomal recessive disease with extensivegenetic heterogeneity. Dyskinetic or completely absent motility of cilia predisposesto recurrent pulmonary and upper respiratory tract infections resulting in bronchiec-tasis. Also infections of the middle ear are common due to lack of ciliary movementin the Eustachian tube. Men have reduced fertility due to spermatozoa with absentmotility or abnormalities in the ductuli efferentes. Female subfertility and tendencyto ectopic pregnancy has also been suggested. Headache, a common complaint inPCD patients, has been associated with absence of cilia in the brain ventricles, lead-ing to decreased circulation of the cerebrospinal fluid. Finally, half of the patients with PCD has situs inversus, probably due to the absence of ciliary motility inHensen's node in the embryo, which is responsible for the unidirectional flow offluid on the back of the embryo, which determines sidedness. PCD, which is aninborn disease, should be distinguished from secondary ciliary dyskinesia (SCD)which is an acquired disease. Transmission electron microscopy is the most com-monly used method for diagnosis of PCD, even though alternative methods, such asdetermination of ciliary motility and measurement of exhaled nitric oxide (NO) maybe considered. The best method to distinguish PCD from SCD is the determination of the number of inner and outer dynein arms, which can be carried out reliably on alimited number of ciliary cross-sections. There is also a significant difference in theciliary orientation (determined by the direction of a line drawn through the centralmicrotubule pair) between PCD and SCD, but there is some overlap in the values, making this parameter less suitable to distinguish PCD from SCD.
影响因子：
6.1
作者：
Halbert, SA;Patton, DL;Soules, MR
通讯作者：
Soules, MR