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Cystic Fibrosis

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Molecular Basis of Pulmonary Disease

Part of the book series: Respiratory Medicine ((RM))

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Abstract

Cystic fibrosis (CF) remains the most common lethal disease associated with a single gene defect in populations of European descent. The gene that prevents CF is the cystic fibrosis transmembrane conductance regulator (CFTR), an ATP-dependent anion channel expressed mostly at the apical surface of epithelia lined with mucus secretions. CF results from a deficiency in CFTR amount and/or function. Fortunately, the clinical situation is rapidly improving for CF patients and their families. The mean age of survival has markedly increased in recent years. These improvements are attributable to the high quality of care that has evolved in the multidisciplinary treatment of secondary defects such as lung infections and malabsorption. Furthermore, the hope of finding a cure or control for individuals with CF is buoyed up by novel pharmacological approaches that directly address the primary defect in CFTR function. This review will examine various aspects of CF including its epidemiology, genetic basis and molecular pathogenesis, animal models, clinical presentation, diagnostic approaches, conventional treatments, and future therapeutic avenues to correct dysfunctional CFTR.

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  1. Department of Medicine, University of Sherbrooke, Sherbrooke, QC, Canada

    André M. Cantin MD

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  1. Div. Pulmonary & Critical Care, University of Cincinnati, Albert Sabin Way 231, Cincinnati, 45267, USA

    Francis X. McCormack

  2. Div. Pulmonary & Critical Care, University of Cincinnati, Albert Sabin Way 231, Cincinnati, 45267, USA

    Ralph J. Panos

  3. Medical Center, Cincinnati Children's Hospital, Burnet Ave. 3333, Cincinnati, 45229, USA

    Bruce C. Trapnell

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Cantin, A.M. (2010). Cystic Fibrosis. In: McCormack, F., Panos, R., Trapnell, B. (eds) Molecular Basis of Pulmonary Disease. Respiratory Medicine. Humana Press. https://doi.org/10.1007/978-1-59745-384-4_16

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