Cystic fibrosis respiratory symptoms

Although therapeutic approaches based upon gene therapy (Chapter 14) may well one day cure cystic fibrosis, current therapeutic intervention focuses upon alleviating cystic fibrosis symptoms, particularly those relating to respiratory function. Improved patient care has increased life expectancy of cystic fibrosis patients to well into their 30s. The major elements of cystic fibrosis management include ... 

Fuchs, H.J., D.S. Borowitz, D.H. Christiansen, E.M. Morris, M.L. Nash, B.W. Ramsey, B.J. Rosenstein, A.L. Smith, and M.E. Wohl, Effect of aerosolized recombinant human DNase on exacerbations of respiratory symptoms and on pulmonary function in patients with cystic fibrosis. The Pulmozyme Study Group. N Engl J Med, 1994. 331(10) 637 2. 

Children with cystic fibrosis lose excessive amounts of salt in perspiration and become dehydrated readily. A salty taste of the skin and an elevated chloride concentration of sweat are traditional diagnostic symptoms.3 More serious problems arise from progressive respiratory failure and inadequate pancreatic secretion. Lung infections with Pseudomonas aeruginosa are the major cause of death. The CFTR gene is expressed in many tissues, especially those of the mucous membranes. 

Most children with cystic fibrosis are diagnosed within one year of birth. Often the symptoms observed in a child, which eventually lead to diagnosis, are malabsorption, failure to gain weight and recurrent respiratory infections. 

Nutrient malabsorption also occurs in the genetic disease cystic fibrosis. This disease arises from a mutation in the chloride ion transporter, and results in pancreatic insufficiency as well a.s respiratory difficulties. Treatment of the malabsorption symptoms of cystic fibrosis involves supplementation with pancreatic enzymes and synthetic water-soluble versions of the fat-soluble vitamins. The labored breathing and respiratory infections due to the disease cannot be treated by dietary intervention. 

Fuchs HJ, Borwitz DS, Christainsen DH, et al. Effect of aerosolized recombinant human DNase on exacerbations of respiratory symptoms and on pulmonary function in patients with cystic fibrosis. N Engl J Med 1994 331 637-642. 

Respiratory symptoms are obstruction of bronchioles with viscous mucus and recurrent infection. Respiratory infections require intensive antibiotic therapy and together with lung damage are the commonest causes of death in people with cystic fibrosis. Viscous secretion is treated with vigorous physiotherapy and the use of mucolytics. 

Drug formulations In February 2010, a solution of aztreonam for inhalation, formulated with lysine, was approved by the US FDA for the treatment of respiratory symptoms in patients with cystic fibrosis and infected with Pseudomonas aeruginosa [75 ], a bacterium that has always been difficult to treat with antibiotics, especially when it grows in biofilm, as is the case in the airways. So far, no new types of adverse effects have been found [76 ]. A key problem will be the development of resistance to this new formulation [77 ]. 

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