New developments in the diagnosis of Kartagener's syndrome.
Kartagener's syndrome is characterized by the clinical triad of bronchitis, sinusitis, and situs inversus. An inherited ultrastructural defect results in ciliary immotility with impaired mucociliary clearance throughout the pulmonary and sinonasal passages. Until recently, the diagnosis of Kartagener's syndrome was made on the basis of a qualitative decrease in the number of dynein arms and subjective abnormalities in other ciliary components on electron microscopy. New investigations, however, have defined objective methods of diagnosis on the basis of quantitative ciliary measurements. The use of these methods in a series of 17 cases of suspected ciliary immotility resulted in a reversal of diagnosis in 6 cases (35%) that previously were considered normal. These results suggest that the prevalence of inherited ciliary dyskinesias is much greater than currently is recognized. The early identification and treatment of individuals with these disorders could lead to a reduction in irreversible sinus and pulmonary pathologic conditions with improved long-term survival.
Teknos
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Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, USA.
Metson
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R
Chasse
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Balercia
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Dickersin
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GR
D001706:Biopsy; D002648:Child; D002923:Cilia / Q000648:ultrastructure; D006801:Humans; D007619:Kartagener Syndrome / Q000175:diagnosis* / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D009297:Nasal Mucosa / Q000473:pathology*; D010256:Paranasal Sinuses / Q000473:pathology*