Lack of correlation between pulmonary disease and cystic fibrosis transmembrane conductance regulator dysfunction in cystic fibrosis: a case report
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Levy, Hara, et al. Lack of Correlation Between Pulmonary Disease and Cystic Fibrosis Transmembrane Conductance Regulator Dysfunction In Cystic Fibrosis: a Case Report. BioMed Central Ltd, 2010. https://doi.org/10.17615/dhr5-nj32APA
Levy, H., Cannon, C., Asher, D., García, C., Cleveland, R., Pier, G., Knowles, M., & Colin, A. (2010). Lack of correlation between pulmonary disease and cystic fibrosis transmembrane conductance regulator dysfunction in cystic fibrosis: a case report. BioMed Central Ltd. https://doi.org/10.17615/dhr5-nj32Chicago
Levy, Hara, Carolynn L Cannon, Daniel Asher, Christopher García, Robert H Cleveland, Gerald B Pier, Michael Knowles et al. 2010. Lack of Correlation Between Pulmonary Disease and Cystic Fibrosis Transmembrane Conductance Regulator Dysfunction In Cystic Fibrosis: a Case Report. BioMed Central Ltd. https://doi.org/10.17615/dhr5-nj32- Creator
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Levy, Hara
- Other Affiliation: Division of Pulmonary Medicine, Children's Hospital Boston, 300 Longwood Avenue, Boston, USA; Harvard Medical School, 25 Shattuck Street, Boston, USA; Channing Laboratory, Brigham and Women's Hospital, 181 Longwood Avenue, Boston, USA
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Cannon, Carolynn L
- Other Affiliation: Division of Allergy and Pulmonary Medicine, St. Louis Children's Hospital, One Children's Place, St. Louis, USA
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Asher, Daniel
- Other Affiliation: Division of Pulmonary Medicine, Children's Hospital Boston, 300 Longwood Avenue, Boston, USA
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García, Christopher
- Other Affiliation: Channing Laboratory, Brigham and Women's Hospital, 181 Longwood Avenue, Boston, USA
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Cleveland, Robert H
- Other Affiliation: Harvard Medical School, 25 Shattuck Street, Boston, USA; Division of Radiology, Children's Hospital, 300 Longwood Avenue, Boston, USA
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Pier, Gerald B
- Other Affiliation: Harvard Medical School, 25 Shattuck Street, Boston, USA; Channing Laboratory, Brigham and Women's Hospital, 181 Longwood Avenue, Boston, USA
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Knowles, Michael
- Affiliation: School of Medicine, Department of Medicine, Division of Pulmonary Diseases and Critical Care Medicine
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Colin, Andrew A
- Other Affiliation: Division of Pediatric Pulmonary Medicine, Miller School of Medicine, University of Miami, 1580 Northwest 10th Avenue, Miami, USA
- Abstract
- Abstract Introduction Mutations in both alleles of the cystic fibrosis transmembrane conductance regulator gene result in the disease cystic fibrosis, which usually manifests as chronic sinopulmonary disease, pancreatic insufficiency, elevated sodium chloride loss in sweat, infertility among men due to agenesis of the vas deferens and other symptoms including liver disease. Case presentation We describe a pair of African-American brothers, aged 21 and 27, with cystic fibrosis. They were homozygous for a rare frameshift mutation in the cystic fibrosis transmembrane conductance regulator 3791delC, which would be expected to cause significant morbidity. Although 80% of cystic fibrosis patients are colonized with Pseudomonas aeruginosa by eight years of age, the older brother had no serum opsonic antibody titer to P. aeruginosa by age 13 and therefore would have failed to mount an effective antibody response to the alginate (mucoid polysaccharide) capsule of P. aeruginosa. He was not colonized with P. aeruginosa until 24 years of age. Similarly, the younger brother was not colonized with P. aeruginosa until age 20 and had no significant lung disease. Conclusion Despite a prevailing idea in cystic fibrosis research that the amount of functional cystic fibrosis transmembrane conductance regulator predicts clinical status, our results indicated that respiratory disease severity in cystic fibrosis exhibits phenotypic heterogeneity. If this heterogeneity is, in part, genetic, it is most likely derived from genes outside the cystic fibrosis transmembrane conductance regulator locus.
- Date of publication
- April 26, 2010
- DOI
- Identifier
- Resource type
- Article
- Rights statement
- In Copyright
- Rights holder
- Hara Levy et al.; licensee BioMed Central Ltd.
- License
- Journal title
- Journal of Medical Case Reports
- Journal volume
- 4
- Journal issue
- 1
- Page start
- 117
- Language
- English
- Is the article or chapter peer-reviewed?
- Yes
- ISSN
- 1752-1947
- Bibliographic citation
- Journal of Medical Case Reports. 2010 Apr 26;4(1):117
- Publisher
- BioMed Central Ltd
- Access right
- Open Access
- Date uploaded
- July 9, 2016
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