Abstract | INTRODUCTION: 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:
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Authors | Hara Levy, Carolynn L Cannon, Daniel Asher, Christopher García, Robert H Cleveland, Gerald B Pier, Michael R Knowles, Andrew A Colin |
Journal | Journal of medical case reports
(J Med Case Rep)
Vol. 4
Pg. 117
(Apr 26 2010)
ISSN: 1752-1947 [Electronic] England |
PMID | 20420703
(Publication Type: Journal Article)
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