Ciliary Discoordination Due To Random Ciliary Orientation

Watchlist

(log in to enable)

Retrieved

2019-09-22

Source

Omim

Trials

—

Genes

—

Drugs

Cyclo[L-alanyl-L-seryl-L-isoleucyl-L-prolyl-L-prolyl-L-glutaminyl-L-lysyl-L-tyrosyl-D-prolyl-L-prolyl-(2S)-2-aminodecanoyl-L-alpha-glutamyl-L-threonyl] acetate salt

Interested in hearing about new therapies?

In a 12-year-old boy whose parents had immigrated to Australia from Lebanon, Rutland and de Iongh (1990) described a history of pulmonary problems dating from the first weeks of life. With quantitative methods for measuring ciliary orientation (de Iongh and Rutland, 1989), they showed that the orientation of the cilia was random as compared to parallel in patients with recurrent respiratory tract infections and in normal subjects. Rutland and de Iongh (1990) considered the orientation to be a primary defect. They suggested that this patient might be fertile since the orientation of sperm tails in relation to each other would not be expected to have an effect on fertility. They pointed out that normal ciliary ultrastructure has been reported in patients with Kartagener syndrome (Herzon and Murphy, 1980; Greenstone et al., 1983) and they suggested that random ciliary orientation could be the defect in some of these patients. Parental consanguinity was not commented on; there were no indications of abnormalities in the parents or sibs.