Cystic fibrosis co-existing with trisomy 21.
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.
Leeds Regional Cystic Fibrosis Centre, St James's University Hospital, Leeds, LS9 7TF, UK. emma_clubley@hotmail.com
E L
EL
Guy
D G
DG
Peckham
K G
KG
Brownlee
S P
SP
Conway
T W R
TW
Lee
D000328:Adult; D000900:Anti-Bacterial Agents / Q000008:administration & dosage; D003550:Cystic Fibrosis / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004314:Down Syndrome / Q000150:complications*; D005541:Forced Expiratory Volume; D017353:Gene Deletion; D005838:Genotype; D006720:Homozygote; D006801:Humans; D007275:Injections, Intravenous; D008168:Lung / Q000503:physiopathology; D008297:Male; D008499:Medical Records; D055624:Methicillin-Resistant Staphylococcus aureus; D010100:Oxygen / Q000627:therapeutic use; D013203:Staphylococcal Infections / Q000188:drug therapy; D014797:Vital Capacity
D000900:Anti-Bacterial Agents; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D010100:Oxygen