Afzelius B A
CRC Crit Rev Biochem. 1985;19(1):63-87. doi: 10.3109/10409238509086788.
The immotile-cilia syndrome is a congenital disorder characterized by all the cilia in the body being either immotile or showing an abnormal and inefficient beating pattern. Most symptoms come from the ciliated airways (nose, paranasal sinuses, and bronchs) and from the middle ear. Two further symptoms are situs inversus and male sterility. Situs inversus occurs in 50% of the cases and this subgroup is termed the Kartagener's syndrome; it might be due to an inability of the embryonic cilia to shift the heart to the left side and situs laterality seems to be a random process in the immotile-cilia syndrome. Male sterility is caused by the spermatozoa being unable to swim progressively; the sperm tail has the same structure as a cilium. In a few cases only the sperm tail or only the cilia of the body are affected. Female patients have a decreased fertility; most are involuntarily childless. The immotile-cilia syndrome is a heterogeneous disorder in that one out of many different genes may be involved. The different subtypes can be distinguished by an electron microscopic examination which will show defects in either one of a number of the ciliary components.
不动纤毛综合征是一种先天性疾病，其特征是体内所有纤毛要么不动，要么呈现异常且低效的摆动模式。大多数症状源于有纤毛的气道（鼻子、鼻窦和支气管）以及中耳。另外两个症状是内脏反位和男性不育。50%的病例会出现内脏反位，这一亚组被称为卡塔格内综合征；这可能是由于胚胎期纤毛无法将心脏移至左侧，在内脏反位的不动纤毛综合征中，左右定位似乎是一个随机过程。男性不育是由精子无法进行渐进性游动所致；精子尾部与纤毛结构相同。仅在少数情况下，只有精子尾部或只有身体的纤毛受到影响。女性患者生育能力下降；大多数人非自愿不育。不动纤毛综合征是一种异质性疾病，因为可能涉及许多不同基因中的一个。通过电子显微镜检查可以区分不同的亚型，该检查会显示多种纤毛成分中的一种存在缺陷。
