Eliasson R, Mossberg B, Camner P, Afzelius B A
N Engl J Med. 1977 Jul 7;297(1):1-6. doi: 10.1056/NEJM197707072970101.
We investigated six men and a woman suspected of suffering from congenital immotility of cilia. All had chronic airway infections, and the men had immotile spermatozoa. The woman and three men had Kartagener's syndrome. The investigations included measurements of the mucociliary transport in the lower airways and ultrastructural studies of the sperm tails or respiratory cilia (or both). Mucociliary transport was significantly delayed. Sperm tails lacked dynein arms in five patients. Respiratory cilia from the women and two men lacked dynein arms and were irregularly oriented. The results support the hypothesis that a congenital defect in the cilia and sperm tails will cause chronic respiratory-tract infections and male sterility--the immotile-cilia syndrome. In about half these patients there will also be a situs inversus--i.e., Kartagener's syndrome.
我们对6名男性和1名疑似患有先天性纤毛运动障碍的女性进行了调查。他们都患有慢性气道感染，男性患者存在精子活动障碍。该女性和3名男性患有卡塔格内综合征。调查包括测量下呼吸道的黏液纤毛运输以及对精子尾部或呼吸道纤毛（或两者）进行超微结构研究。黏液纤毛运输明显延迟。5名患者的精子尾部缺乏动力蛋白臂。该女性和2名男性的呼吸道纤毛缺乏动力蛋白臂且方向不规则。这些结果支持了这样的假说，即纤毛和精子尾部的先天性缺陷会导致慢性呼吸道感染和男性不育——即不动纤毛综合征。在大约一半的这些患者中还会出现内脏反位——也就是卡塔格内综合征。
