title: Cystic fibrosis. A dilemma in the metabolic pathogenesis of genetic disease.
abstract: The fundamental pathological observations in cystic fibrosis (CF) were made over three decades ago. More recently, physiological findings have directed investigation toward a plethora of humoral substances and their possible role in disturbances of the secretory processes in CF. The application of the techniques of molecular biology and of tissue culture is beginning to increase our knowledge about the so-called CF factors and their diverse effects on epithelial and ciliated surfaces. Emphasis in current research is on the chemical characterization of the CF factors, the metabolism of cells cultured from patients with CF, and the biochemical events controlling the processes of secretion. Some current theories as to the metabolic pathogenesis of CF are considered in the context of existing findings.
mesh_terms: D000818:Animals; D002478:Cells, Cultured; D003550:Cystic Fibrosis / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D003593:Cytoplasm / Q000648:ultrastructure; D005347:Fibroblasts / Q000648:ultrastructure; D006025:Glycosaminoglycans / Q000378:metabolism; D006801:Humans; D007074:Immunoglobulin G / Q000032:analysis; D007231:Infant, Newborn; D007962:Leukocytes / Q000648:ultrastructure; D009077:Mucins / Q000378:metabolism; D011485:Protein Binding; D011817:Rabbits; D012463:Saliva / Q000032:analysis; D012469:Salivary Glands / Q000648:ultrastructure; D013542:Sweat / Q000032:analysis
chemical_list: D006025:Glycosaminoglycans; D007074:Immunoglobulin G; D009077:Mucins