Torikata C, Kawai T, Nogawa S, Ikeda K, Shimizu K, Kijimoto C
Department of Pathology, Keio University School of Medicine, Tokyo, Japan.
Hum Pathol. 1991 Aug;22(8):830-6. doi: 10.1016/0046-8177(91)90213-9.
Respiratory cilia and sperm flagella of nine Japanese patients with immotile-dyskinetic cilia syndrome were studied ultrastructurally by using a tannic acid-containing fixative. Respiratory cilia from two female patients with Kartagener's syndrome and one male patient with situs inversus and sinobronchitis were completely immotile and lacked both dynein arms. However, approximately 30% of the spermatozoa from the male patient were weakly motile. In four patients with immotile cilia syndrome without Kartagener's triad, immotile respiratory cilia generally lacked the inner dynein arms. Two clinically unusual cases, an 11-year-old boy and a 29-year-old woman with prolonged saccharin test, recurrent bronchitis, and bronchiectasia, possessed motile respiratory cilia. Ultrastructurally, both dynein arms were normal, but numerous defective central pairs (more than 50% and 70%, respectively) were seen, and the defect in the second case was similar to the transposition of microtubules reported by Sturgess et al (N Engl J Med 303:318-322, 1980). However, defects in the first case were unique and may be congenital. We propose a new type of dyskinetic cilia syndrome with defective central pairs. Additionally, nasal cilia from a 35-year-old man with immotile cilia syndrome contained excess large singlets within ciliary axonemes consisting of 17 protofilaments.
使用含鞣酸固定剂，对9例患有纤毛运动障碍综合征的日本患者的呼吸道纤毛和精子鞭毛进行了超微结构研究。来自2例患有卡塔格内综合征的女性患者和1例患有内脏反位和鼻窦支气管炎的男性患者的呼吸道纤毛完全不能运动，且缺乏动力蛋白臂。然而，该男性患者约30%的精子有微弱运动。在4例无卡塔格内三联征的纤毛运动障碍综合征患者中，不能运动的呼吸道纤毛通常缺乏内侧动力蛋白臂。有2例临床不寻常的病例，分别是一名11岁男孩和一名29岁女性，他们的糖精试验时间延长、反复出现支气管炎和支气管扩张，其呼吸道纤毛具有运动能力。超微结构显示，两者的动力蛋白臂均正常，但可见大量缺陷中央微管对（分别超过50%和70%），第二例中的缺陷与斯特吉斯等人报道的微管转位相似（《新英格兰医学杂志》303:318 - 322, 1980）。然而，第一例中的缺陷是独特的，可能是先天性的。我们提出一种伴有缺陷中央微管对的新型运动障碍性纤毛综合征。此外，一名患有纤毛运动障碍综合征的35岁男性的鼻纤毛在由17条原纤维组成的纤毛轴丝内含有过多的大型单微管。
