Cystic fibrosis diagnosed in an elderly man

Respiration. Jan-Feb 2004;71(1):98-100. doi: 10.1159/000075659.

Abstract

Although most patients with cystic fibrosis (CF) are diagnosed in early childhood, the diagnosis may be delayed for patients with mild symptoms or single-organ disease. We describe a man with known infertility and a history of productive cough diagnosed with CF at 61 years of age. The patient carries two mutations and one variant in the CF transmembrane conductance regulator gene: 394delTT, P99L and R75Q. During a 15-year follow-up time he has developed significant pulmonary disease.

Publication types

  • Case Reports

MeSH terms

  • Age Factors
  • Bronchiectasis / diagnosis*
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis Transmembrane Conductance Regulator / analysis*
  • Humans
  • Male
  • Middle Aged
  • Prognosis
  • Quality of Life
  • Radiography, Thoracic
  • Respiratory Function Tests
  • Risk Assessment
  • Severity of Illness Index
  • Time Factors

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator