Ultrastructural study of immotile cilia syndrome

Recently immotile cilia syndrome has gained the interest of a number of investigators from the aspects of the physiology and pathology of the ciliary movement. This is because microstructural abnormalities of the dynein arms in the cilia of the respiratory mucosal epithelium and in the flagella of sperm tails have been identified in this syndrome. The present study was designed to find a simple clinical method for detecting patients having this syndrome, and was conducted to elucidate the clinical significance and etiology of this syndrome. In order to detect patients with immotile cilia syndrome, 72 patients with one of more conditions such as sinusitis, bronchiectasis, situs inversus and sterility were examined using a ciliary function test and electron microscope observation of the nasal cilia. Seven of the examined patients were diagnosed as having immotile cilia syndrome on the basis of the presence of the characteristic ultrastructural patterns of the nasal cilia, i.e., disorders of the dynein arms. The possibility of positive test results increases greatly as the degree of the complications increases, especially in the case of a combination of chronic inflammation of the respiratory tract with situs inversus and sterility. As the electron microscope findings of this syndrome, Afzelius (1979) has reported defects of the dynein arms, spoke head and central sheath. Beyond these microstructural abnormalities, I have identified abnormal attachment of the dynein arms as a new parameter in the electron microscopic diagnosis of immotile cilia syndrome.