Cystic fibrosis co-existing with trisomy 21

J Cyst Fibros. 2010 Sep;9(5):330-1. doi: 10.1016/j.jcf.2010.05.003. Epub 2010 Jun 11.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anti-Bacterial Agents / administration & dosage
  • Cystic Fibrosis / complications*
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis / physiopathology
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Down Syndrome / complications*
  • Forced Expiratory Volume
  • Gene Deletion
  • Genotype
  • Homozygote
  • Humans
  • Injections, Intravenous
  • Lung / physiopathology
  • Male
  • Medical Records
  • Methicillin-Resistant Staphylococcus aureus
  • Oxygen / therapeutic use
  • Staphylococcal Infections / drug therapy
  • Vital Capacity

Substances

  • Anti-Bacterial Agents
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Oxygen