Recurrent Cough and Expectoration for 10 Years: A Case Report

Area of Science:

• Medical Genetics
• Pediatric Pulmonology
• Rare Diseases

Background:

• Cystic fibrosis (CF) is a genetic disorder primarily affecting European populations, with pulmonary manifestations posing a significant threat to children.
• The disease, often caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7, has a poor prognosis in pediatric patients.
• Recurrent respiratory symptoms like cough and expectoration, especially when accompanied by hematemesis, warrant consideration for CF in children.

Observation:

• A 15-year-old male with a decade-long history of recurrent cough and expectoration, and a prior diagnosis of pulmonary CF and hepatic cirrhosis, presented with hematemesis.
• The patient's symptoms included persistent cough, expectoration, and a recent episode of hematemesis, necessitating hospitalization.
• Diagnostic evaluations, including genetic testing for the CFTR gene and sweat tests, confirmed the diagnosis of cystic fibrosis.

Findings:

• The specific genetic mutation identified was in the cystic fibrosis transmembrane conductance regulator gene (p.G970D).
• Treatment involved hemostatic agents, antibiotics, and therapies to manage cough and sputum.
• The patient showed rapid improvement and clinical stability post-intervention, although the risk of relapse due to respiratory infections remains.

Implications:

• This case highlights the importance of considering cystic fibrosis in pediatric patients with unexplained chronic respiratory symptoms, even in regions where it is less common.
• Prompt genetic and sweat testing are recommended for early diagnosis and to identify candidates for emerging CFTR modulator therapies.
• Timely diagnosis and management can improve outcomes for children with cystic fibrosis, potentially altering the historically poor prognosis.