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Báo cáo y học: " Lack of correlation between pulmonary disease and cystic fibrosis transmembrane conductance regulator dysfunction in cystic fibrosis: a case report"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài:Lack of correlation between pulmonary disease and cystic fibrosis transmembrane conductance regulator dysfunction in cystic fibrosis: a case report | Levy et al. Journal of Medical Case Reports 2010 4 117 http www.jmedicalcasereports.eom content 4 1 117 jA JOURNALOF.MEDICAL CASE REPORTS CASE REPORT Open Access Lacklof correlation between pulmonary disease and cystic fibrosis transmembrane conductance regulator dysfunction in cystic fibrosis a case report Hara Levy 1 2 3 Carolynn L Cannon4 Daniel Asher1 Christopher García3 Robert H Cleveland2 5 Gerald B Pier2 3 Michael R Knowles6 and Andrew A Colin7 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 .