Bacterial colonization of the respiratory tract in patients with cystic fibrosis
Year: 2000
Type: dissertation
Abstract: Cystic fibrosis (CF) is the most common single gene disorder in The Netherlands and occurs\\napproximately once in every 3600 children born alive. The heterozygous carrier frequency\\nhas been estimated to be approximately 1 :30.\\nThe defective gene was identified in 1989 and appeared to be located on chromosome.\\nIt codes for the cystic fibrosis transmembrane conductance regulator (CFTR), which acts as\\na transmembrane chloride channel. The most frequent mutation of this gene is the deletion of\\nphenylalanine at position 508 ("F508). Almost 60% of the known CF patients in The\\nNetherlands are homozygous for the "F508 mutation. More than 700 additional CFTR\\nmutations related to CF have been identified as oflate May 1997 by the CF Genetic Analysis\\nConsortium.\\nThe gene defect results in significant morbidity and affects mainly the respiratory tract and\\nthe pancreas. The CF lung presents an unique environment to microbial pathogens. The\\ncombination oflow or absent chloride secretion and an increased sodium absorption results in\\nrelative dehydration of the ainvays. Consequently, the disease is characterized by the\\nproduction of abnonnally viscid secretions in epithelial tissues. Mucociliary clearance of\\nbacteria from the lungs is impaired because of the viscid, dehydrated nature of the airway\\nepithelia. Chronic ainvay inflammation leads to excessive secretion of purulent mucus and to\\nobstmction of the airway which in turn causes bronchiectasis, pulmonary hypertension with\\ncor pulmonale, haemoptysis, pneumothorax and, finally, respiratory failure. The exacerbation\\nof puhnonary infections is the major cause of morbidity and mortality in patients with CF.\\nAggressive early treatment of respiratory infections is a critical success factor in the treatment\\nofCF patients. Thirty years ago, most patients died in infancy. Nowadays, patients born in the\\n1990\\'s are likely to live up to a median age of 40 years.
Author: Nicole H. M. Renders
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2114871970