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Cystic fibrosis presenting with persistent pneumonia --a case study of a 3-month-old adopted baby

Moushumi Lodh, Anand Kerketta Joshi

    Journal of the Indian Medical Association
    |June 28, 2014
    PubMed

    Insights

    Early diagnosis of cystic fibrosis (CF) in infants with persistent pneumonia and failure to thrive is crucial. Prompt management significantly improves clinical outcomes and weight gain in affected children.

    Area of Science:

    • Pediatrics
    • Genetics
    • Respiratory Medicine

    Background:

    • Cystic fibrosis (CF) diagnosis typically relies on clinical features, family history, or newborn screening, alongside lab confirmation of CF transmembrane conductance regulator (CFTR) dysfunction.
    • Undiagnosed CF can lead to severe health deterioration, particularly in infants presenting with complex respiratory and nutritional issues.

    Observation:

    • An adopted infant presented with persistent pneumonia since birth, rapid health decline, listlessness, and malnutrition.
    • Despite a lack of typical diagnostic history, the infant's critical condition prompted further investigation.

    Findings:

    • The infant was diagnosed with cystic fibrosis.
    • Early and effective management led to significant clinical improvement and weight gain within 15 days of hospitalization.

    Implications:

    • Recurrent wheezing and failure to thrive in infants warrant early investigation for cystic fibrosis.
    • Timely diagnosis and intervention are critical for improving outcomes in pediatric CF cases.
    • Highlights the importance of considering CF in infants with non-specific respiratory symptoms and failure to thrive.

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