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Cystic fibrosis lung disease: genetic influences, microbial interactions, and radiological assessment

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Abstract

Cystic fibrosis (CF) is a multiorgan disease caused by mutation of the CF transmembrane conductance regulator (CFTR) gene. Obstructive lung disease is the predominant cause of morbidity and mortality; thus, most efforts to improve outcomes are directed toward slowing or halting lung-disease progression. Current therapies, such as mucolytics, airway clearance techniques, bronchodilators, and antibiotics, aim to suppress airway inflammation and the processes that stimulate it, namely, retention and infection of mucus plaques at the airway surface. New approaches to therapy that aim to ameliorate specific CFTR mutations or mutational classes by restoring normal expression or function are being investigated. Because of its sensitivity in detecting changes associated with early airway obstruction and regional lung disease, high-resolution CT (HRCT) complements pulmonary function testing in defining disease natural history and measuring response to both conventional and experimental therapies. In this review, perspectives on the genetics and microbiology of CF provide a context for understanding the increasing importance of HRCT and other imaging techniques in assessing CF therapies.

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Acknowledgements

The authors wish to thank Stephanie Leak and Kirsten Lawson for their help with the preparation of text and graphics for this review.

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Authors and Affiliations

  1. Department of Pediatrics, University of Washington School of Medicine and Children’s Hospital and Regional Medical Center, Seattle, WA, USA

    Samuel M. Moskowitz & Ronald L. Gibson

  2. Department of Radiology, University of Washington School of Medicine and Children’s Hospital and Regional Medical Center, 4800 Sand Point Way NE, Seattle, WA, 98105, USA

    Eric L. Effmann

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  1. Samuel M. Moskowitz
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  2. Ronald L. Gibson
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  3. Eric L. Effmann
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Correspondence to Eric L. Effmann.

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Moskowitz, S.M., Gibson, R.L. & Effmann, E.L. Cystic fibrosis lung disease: genetic influences, microbial interactions, and radiological assessment. Pediatr Radiol 35, 739–757 (2005). https://doi.org/10.1007/s00247-005-1445-3

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