Kartagener Syndrome

Kartageners syndrom

Svensk definition

En autosomal, recessiv sjukdom kännetecknad av bronkiektasi, sinuit, dextrokardi och ofruktsamhet. In vitro-studier av vävnader från drabbade patienter uppvisar olika mönster av onormala flimmerhårsrörelser.

Engelsk definition

An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Syndrome, Kartagener Kartagener's Syndrome Kartageners Syndrome Syndrome, Kartagener's Kartagener's Triad Kartageners Triad Kartagener Triad Siewert Syndrome Syndrome, Siewert Dextrocardia, Bronchiectasis, and Sinusitis Ciliary Dyskinesia, Primary, 1 Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus Polynesian Bronchiectasis Bronchiectasis, Polynesian Polynesian Bronchiectases