Francis ZD, Ramírez CZ, González NL

Language: Spanish
References: 0
Page: 221-226
PDF size: 388.46 Kb.

ABSTRACT

The ciliopathies are defined as a group of clinically and genetically heterogeneous syndromes caused by defects in the formation and/or function of cilia and are classified as mobile and immobile ciliopathies. Kartagener syndrome, autosomal recessive disease, is a mobile ciliopathy that integrates a group of diseases called primary ciliary dyskinesia; and it is manifested clinically at early ages of life for present susceptibility to chronic recurrent respiratory infections, situs inversus, and infertility in adulthood. Kartagener syndrome occurs by mutations in certain genes encoding proteins arms outer and inner dynein axonemal ciliary present. In this review of 28 references we explained the morphological, functional and genetic relationship between Kartagener syndrome and ciliopathies.