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Updated: Jul 4, 2026

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
08:00

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study

Published on: April 11, 2018

Cystic fibrosis in a septuagenarian

Jessie Johnson1, Nawaid Ahmad2

  • 1The Shrewsbury and Telford Hospital NHS Trust, Shropshire, UK jessie.johnson2@nhs.net.

BMJ Case Reports
|June 29, 2026
PubMed

Insights

Cystic fibrosis (CF) can be diagnosed in older adults, even in their 70s, challenging its perception as a pediatric disease. This case highlights the need for broader CF screening in adults with respiratory symptoms.

Area of Science:

  • Pulmonology
  • Genetics
  • Internal Medicine

Background:

  • Cystic fibrosis (CF) is typically diagnosed in childhood, with over 75% of cases identified before age 2.
  • Adult-onset CF is rare but presents diagnostic challenges due to atypical symptoms.

Purpose of the Study:

  • To report a case of CF diagnosed in an elderly male.
  • To emphasize the importance of considering CF in adults with suggestive clinical presentations, regardless of age.

Main Methods:

  • Case report of a male in his 70s investigated for a pulmonary nodule and bronchiectasis.
  • Diagnostic confirmation via elevated sweat chloride levels and CFTR genotyping.

Main Results:

  • The patient was diagnosed with CF, carrying compound heterozygosity for F508del and R347H mutations.
  • This diagnosis occurred late in life, prompted by incidental imaging findings.

Conclusions:

  • Clinicians, especially those outside specialized CF centers, should consider CF in adults with a constellation of suggestive symptoms, irrespective of age.
  • Variability in adult CF screening practices necessitates reflection on standardized approaches to reduce diagnostic delays.
  • This case underscores that CF genotype-phenotype correlations may not always align with typical clinical patterns.

Keywords:
Cystic fibrosisLung function

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