[Etio-pathogenesis of cystic fibrosis].
Recent researches confirm the recessive mendelian modality of hereditary transmission in Cystic Fibrosis. Two groups of factors contribute to the pathogenesis of respiratory disease: the secretive-obstructive and the infectious. It has also been ascertained that a large part of the respiratory complications are due to pseudomonas aeruginosa, above all to particular sub-groups which produce hexosepolisaccaridic masses. Even though immunological moments are present, it has been confirmed that the disease does not have a primary immunologic pathogenesis. Various recent acquisitions shed light on the fundamental alterations in pathophysiology of the disease. The most interesting developments regard: the glycoproteins of secretions and tissues; the activity of the enzymes involved in glycoproteins metabolism; the electrolytes regulation systems, in particular the intracellular calcium; the presence of abnormal proteins in plasma, urine, secretions and cells in culture; the characteristics of chemical mediator receptors. The modifications of the processes of glycosilation and hydrolysis of the glycoproteins are particularly significant. The most important and univocal observations regard the enzymes, sialyl-transferase and alpha-L-fucosidase, the former involved in the incorporation of sialic acid into the glycoproteins and the latter in the detachment of fucose from the glycoproteins. Polyamines, which participate in many phases of metabolism, as that of glycoproteins, have been found to present modifications of certain importance.(ABSTRACT TRUNCATED AT 250 WORDS)
D002118:Calcium / Q000378:metabolism; D003550:Cystic Fibrosis / Q000150:complications / Q000209:etiology* / Q000378:metabolism / Q000473:pathology; D005643:Fucose / Q000378:metabolism; D006801:Humans; D008286:Malabsorption Syndromes / Q000209:etiology; D012120:Respiration Disorders / Q000209:etiology; D013545:Sweat Glands / Q000378:metabolism
D005643:Fucose; D002118:Calcium
Momenti eziopatogenetici della fibrosi cistica.