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Updated: Jun 12, 2026

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
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Cystic fibrosis co-existing with trisomy 21

E L Guy1, D G Peckham, K G Brownlee

  • 1Leeds Regional Cystic Fibrosis Centre, St James's University Hospital, Leeds, LS9 7TF, UK. emma_clubley@hotmail.com

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|June 12, 2010
PubMed

Insights

This case study highlights a 25-year-old male with cystic fibrosis and trisomy 21, surviving well beyond previous reports. His survival challenges current understanding of this dual diagnosis prognosis.

Area of Science:

  • Genetics and rare disease research.
  • Pediatric and adult medicine.
  • Clinical case study methodology.

Background:

  • The co-occurrence of cystic fibrosis (CF) and full trisomy 21 (Down syndrome) has historically been associated with a severe prognosis in children.
  • Previous reports indicate a high mortality rate in infancy, with limited survival beyond 6 years.

Observation:

  • A young man with genetically confirmed trisomy 21 and homozygous for the F508del CF mutation is presented.
  • Diagnosis of cystic fibrosis was delayed until 2 years of age.

Findings:

  • The patient has transitioned to adult services and is currently 25 years old.
  • Despite delayed diagnosis, he demonstrates extended survival compared to previously reported cases.
  • He currently experiences poor lung function and requires continuous ambulatory oxygen.

Implications:

  • This case challenges the established poor prognosis for individuals with combined cystic fibrosis and trisomy 21.
  • It suggests potential factors influencing survival in this complex genetic condition.
  • Further research is warranted to understand the long-term outcomes and management strategies for this patient population.

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