The Immotile-Cilia Syndrome

TLDR

Patients had chronic airway infections, immotile sperm in men, and some exhibited Kartagener's syndrome. The study examined six men and one woman with suspected congenital immotile cilia, assessing mucociliary transport and ultrastructural features of sperm tails and respiratory cilia. Mucociliary transport was delayed, dynein arm deficiency was found in sperm tails and respiratory cilia, supporting that congenital ciliary defects cause chronic respiratory infections, male sterility, and often situs inversus (Kartagener's syndrome).

Abstract

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.