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Gene Therapy for Cystic Fibrosis Lung Disease

  • Chapter
The Pediatric Lung

Part of the book series: Respiratory Pharmacology and Pharmacotherapy ((RPP))

Abstract

Cystic fibrosis (CF) is a complex, fatal autosomal recessive inherited disorder caused by mutations of the CF transmembrane conductance regulator (CFTR) gene [1]. The disease affects children and young adults and is most common in individuals of Northern European descent, with an estimated incidence in Caucasians of 1 in 2,500 births and a prevalence of 30,000 in the United States. Remarkably, the heterozygous carrier frequency in this population is 1 in 25 individuals. CF is also found in individuals of African and Southern European descent, Native Americans and Ashkenazi Jews although it is significantly less frequent in these populations [1, 2]. The first comprehensive clinical descriptions of CF as a familial disorder were provided in the 1930s [3, 4] followed by identification of the autosomal recessive mode of inheritance in 1946 [5]. A biochemical clue came in 1953 when an abnormally high sodium chloride concentration was noted in the sweat of individuals with CF [6]. Additional biochemical insight was provided in the 1980s with the description of abnormal regulation of cyclic adenosine monophosphate (cAMP)-activated chloride conductance in the apical membrane of epithelial cells of CF sweat glands [7] and respiratory airways [8].

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Authors and Affiliations

  1. Department of Virology, Genetic Therapy, Inc., Washington DC, USA

    Bruce C. Trapnell

  2. Department of Medicine, Georgetown University Medical Center, Washington DC, USA

    Bruce C. Trapnell

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  1. Children’s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH, 45229-3039, USA

    Robert W. Wilmott M.D. (Director, Pulmonary Medicine, Allergy, and Clinical Immunology, The Hubert and Dorothy Campbell Professor of Pediatric Pulmonology) (Director, Pulmonary Medicine, Allergy, and Clinical Immunology, The Hubert and Dorothy Campbell Professor of Pediatric Pulmonology)

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Trapnell, B.C. (1997). Gene Therapy for Cystic Fibrosis Lung Disease. In: Wilmott, R.W. (eds) The Pediatric Lung. Respiratory Pharmacology and Pharmacotherapy. Birkhäuser, Basel. https://doi.org/10.1007/978-3-0348-8960-5_10

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  • DOI: https://doi.org/10.1007/978-3-0348-8960-5_10

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