The Immotile-Cilia Syndrome — A Congenital Ciliary Abnormality as an Etiologic Factor in Chronic Airway Infections and Male Sterility

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 woman 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 immotilecilia syndrome. In about half these patients there will also be a situs inversus — i.e., Kartagener's syndrome. (N Engl J Med 297:1–6, 1977)