[Kartagener's syndrome. Review of the literature and report of 4 cases in 3 families].
The clinical histories of 16 children with situs inversus were reviewed; 3 of them had complete Kartagener's syndrome (situs inversus, sinusitis and bronchiectasis). Also a sister of one of the cases complained of an incomplete form of the syndrome (without situs inversus). In the 3 families, 17 siblings were studies: 4 had Kartagener's syndrome and another 7 showed recurrent respiratory infections. The parents of one of the families were relatives in an unknown degree. In this entity, abnormalities of the cilia have been demonstrated in electron microscopy, as well as a deficit of mucociliary clearance. Thus, the concept of the Immotile Cilia Syndrome" has been proposed as a pathophysiologic substratum for the recurrent upper and lower respiratory infections, and male, infertility in this illness. Situs inversus is found in 50% of these cases and constitutes the complete Kartagener's syndrome. The incomplete form is diagnosed when there is a positive family history or the ultrastructural abnormality is demonstrated. An early diagnosis and treatment may prevent the development of bronchiectasis, which is the most invalidating lesion.
D000293:Adolescent; D000328:Adult; D001987:Bronchiectasis / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002923:Cilia / Q000502:physiology; D005260:Female; D006801:Humans; D007223:Infant; D007248:Infertility, Male / Q000209:etiology; D007619:Kartagener Syndrome / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011859:Radiography; D012141:Respiratory Tract Infections / Q000503:physiopathology
Síndrome de Kartagener. Revisión de la literatura e informe de cuatro casos en tres familias.