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Cystic fibrosis and gastroesophageal reflux in infancy
Insights
Misdiagnosis of gastroesophageal reflux (GER) in infants may delay cystic fibrosis (CF) diagnosis. Treatment for GER with bethanechol chloride worsened respiratory symptoms in two infants later diagnosed with CF.
Area of Science:
- Pediatrics
- Pulmonology
- Medical Diagnostics
Background:
- Gastroesophageal reflux (GER) is a common condition in infants, often presenting with chronic lung disease and failure to thrive.
- Bethanechol chloride is a medication sometimes used to manage GER symptoms.
Observation:
- Two infants diagnosed with GER were treated with bethanechol chloride, leading to respiratory failure and need for ventilatory support.
- Both infants exhibited severe air trapping, CO2 retention, and difficulty weaning from mechanical ventilation, with Staphylococcus aureus infections.
Findings:
- The clinical presentation raised suspicion for cystic fibrosis (CF), which was confirmed by sweat testing.
- Infants showed significant improvement upon discontinuation of bethanechol chloride and initiation of CF-specific care.
Implications:
- This case highlights the potential for GER misdiagnosis to delay critical CF diagnosis and treatment.
- Early and accurate diagnosis is crucial for optimal management of respiratory symptoms in infants with underlying CF.
Abstract:
Gastroesophageal reflux (GER) was initially diagnosed in two black infants, aged 5 and 9 months, as a cause of their chronic lung disease and failure to thrive. Both infants were treated with bethanechol chloride as part of the management of their GER, but respiratory failure developed in both patients and they required ventilatory support. Both infants had severe air trapping, CO2 retention, difficulty in being weaned from mechanical ventilation, and Staphylococcus aureus cultured from their respiratory tract secretions. These factors led to the suspicion of cystic fibrosis (CF), and this diagnosis was subsequently confirmed by sweat test. The condition of both infants improved substantially on withdrawal of bethanechol therapy and the institution of a regimen of CF care. The early diagnosis of GER in these infants may have led to a delay in diagnosis and treatment of CF.