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Cystic fibrosis - Comparison between patients in paediatric and adult age

V Santos1, A V Cardoso1, C Lopes2

  • 1Pulmonology Department, Centro Hospitalar de São João, EPE, Portugal.

Revista Portuguesa De Pneumologia
|October 17, 2016
PubMed

Insights

Cystic fibrosis (CF) diagnosis in adulthood is increasing. Adult CF patients diagnosed in childhood show greater disease severity and higher mortality rates compared to those diagnosed later in life.

Area of Science:

  • Pulmonology
  • Genetics
  • Internal Medicine

Background:

  • Cystic fibrosis (CF) is a common autosomal recessive disorder in Caucasians.
  • While typically diagnosed in childhood, adult-onset CF is increasingly recognized.

Purpose of the Study:

  • To evaluate adult CF patients in Portugal.
  • Compare characteristics and outcomes of patients diagnosed before versus after 18 years of age.

Main Methods:

  • Retrospective analysis of 89 adult CF patients from three Portuguese medical centers in 2012.
  • Group 1 (G1): diagnosed <18 years; Group 2 (G2): diagnosed ≥18 years.
  • Comparison of demographics, mutation status, clinical severity, and outcomes.

Main Results:

  • G1 had more patients homozygous for delF508 mutation (43.6% vs 8.8%).
  • G1 exhibited greater disease severity: lower FEV1 (54.6% vs 29.9%), higher pancreatic insufficiency (72.7% vs 26.5%), and lower BMI (20.2 vs 22.2).
  • G1 had higher mortality rates (3.6% vs 0%) and hospital admissions.

Conclusions:

  • Adult CF patients diagnosed in childhood differ significantly from those diagnosed later.
  • These distinctions impact diagnosis, prognosis, and life expectancy in cystic fibrosis.
  • Delayed diagnosis in adulthood may be associated with milder initial presentation.

Keywords:
Cystic fibrosisCystic fibrosis adultCystic fibrosis diagnosisCystic fibrosis in childhoodCystic fibrosis late diagnosis

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