| Abstrakt: |
Primary ciliary dyskinesia (PCD) is an autosomal recessive disease with extensive genetic heterogeneity. Dyskinetic or completely absent motility of cilia predisposes to recurrent pulmonary and upper respiratory tract infections resulting in bronchiectasis. Also infections of the middle ear are common due to lack of ciliary movement in the Eustachian tube. Men have reduced fertility due to spermatozoa with absent motility or abnormalities in the ductuli efferentes. Female subfertility and tendency to ectopic pregnancy has also been suggested. Headache, a common complaint in PCD patients, has been associated with absence of cilia in the brain ventricles, leading to decreased circulation of the cerebrospinal fluid. Finally, half of the patients with PCD has situs inversus, probably due to the absence of ciliary motility in Hensen's node in the embryo, which is responsible for the unidirectional flow of fluid on the back of the embryo, which determines sidedness. PCD, which is an inborn disease, should be distinguished from secondary ciliary dyskinesia (SCD) which is an acquired disease. Transmission electron microscopy is the most commonly used method for diagnosis of PCD, even though alternative methods, such as determination of ciliary motility and measurement of exhaled nitric oxide (NO) may be considered. The best method to distinguish PCD from SCD is the determination have been carried out on cell cultures of airway epithelial cells. According to Matsui et al. [17] values for Na+ and Cl were nearly isotonic, whereas Zabner et al. [2] found values for Na+ and Cl- around 50 mM, and McCray et al. [18] found a value for Cl-of 18 mM. We have carried out a study of the composition of ASL using X-ray microanalysis in humans and several animal species. We started with pig airways, which share many structural and physiological similarities with human airways [19, 20]. We continued with rodent (mouse, rat) airways, which gave us the possibility to investigate CF mice [21-23]. We also carried out a study on human nasal fluid, where we investigated both normal humans, CF patients and patients with rhinitis (Vanthanouvong et al., submitted for publication), and we are investigating cell cultures of airway epithelial cells from CF patients and healthy controls (Kozlova et al., submitted for publication).. We have used two different techniques: X-ray microanalysis' of frozen-hydrated specimens [19], and X-ray microanalysis of ASL absorbed into small ion exchange beads [21]. [ABSTRACT FROM AUTHOR] |
