| Literature DB >> 20538528 |
E L Guy1, D G Peckham, K G Brownlee, S P Conway, T W R Lee.
Abstract
Previous reports of children with co-existence of cystic fibrosis and full trisomy 21 suggest a very poor prognosis, with the majority of cases dying in infancy and the oldest reported survivor being 6 years of age. We report the case of a young man with genetically confirmed trisomy 21 and homozygous for the F508del cystic fibrosis mutation. Despite the diagnosis of cystic fibrosis being delayed until the age of 2 years he has transitioned to adult services and is now 25 years of age. Currently he has poor lung function and a continuous ambulatory oxygen requirement.Entities:
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Year: 2010 PMID： 20538528 DOI： 10.1016/j.jcf.2010.05.003
Source DB: PubMed Journal: J Cyst Fibros ISSN： 1569-1993 Impact factor: 5.482