More than several hundred cases of Kartagener's syndrome (situs inversus, bronchiectasis and sinusitis) have been reported since Kartagener's original report. Although congenital genetical factors were emphasized in the development of the disease, no clear explanation on its pathogenesis has been made.
We were able to examine two siblings with this triad. Their parents were half-cousins and some family members suffer from sinusitis or chronic obstructive lung disease. Genetic and biochemical studies were performed on the patients, their parents and seven other relatives.
HLA typing, chromosomal analysis, measurement of activities of red blood cell enzymes and serum protein levels including immunoglobulins, determination of the phenotypes of red blood cell enzymes and serum proteins by electrophoresis were performed.
Serum IgA levels were within normal limits and phenotyping of α1-antitrypsin showed M1M1 in all eleven subjects studied. Analysis of sweat electrolytes of the patients were abnormal and revealed marked elevation of both sodium and chloride. We must rule out complication of cystic fibrosis in our cases, and both of them had no evidence of pancreatic disorders.
However there are many cases of cystic fibrosis showing no pancreatic insufficiency, and on the other hand, chronic sinusitis and nasal polyps are ofter seen in patient with cystic fibrosis. In addition, several cases were reported suffering from both Kartagener's syndrome and cystic fibrosis.
Our results suggest the possibility that the pathogenesis of both diseases may involve a common mechanism.
