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Cystic fibrosis presenting with chronic electrolyte depletion, metabolic alkalosis and hyperaldosteronism
Scottish Medical Journal
|October 1, 1982
Insights
Cystic fibrosis can present in infants with failure to thrive, electrolyte imbalances, and metabolic alkalosis. Early diagnosis is crucial, confirmed by abnormal sweat electrolytes and pancreatic insufficiency.
Area of Science:
- Pediatrics
- Medical Genetics
- Biochemistry
Background:
- Cystic fibrosis (CF) is a genetic disorder affecting multiple organs.
- Infantile presentations can be diverse, including failure to thrive (FTT).
- Metabolic derangements like electrolyte depletion and alkalosis are significant clinical signs.
Observation:
- A 5-month-old infant presented with FTT, severe electrolyte depletion, metabolic alkalosis, and hyperaldosteronism.
- The infant's clinical presentation suggested a significant underlying condition requiring investigation.
Findings:
- Diagnosis of cystic fibrosis was confirmed through abnormal sweat electrolytes.
- Pancreatic insufficiency was also identified as a key diagnostic marker.
- The biochemical profile was highly indicative of CF.
Implications:
- This case highlights the importance of considering cystic fibrosis in infants with unexplained failure to thrive and specific biochemical abnormalities.
- Early exclusion of CF in infants with electrolyte depletion and metabolic alkalosis is critical for timely intervention.
- Abnormal sweat electrolytes serve as a key diagnostic indicator for cystic fibrosis in pediatric patients.
Abstract:
A five month old infant who presented with failure to thrive and was found to have severe electrolyte depletion, metabolic alkalosis and hyperaldosteronism is described. The diagnosis of cystic fibrosis was made by demonstrating abnormal sweat electrolytes and pancreatic insufficiency. It is important to exclude cystic fibrosis in any infant presenting with this biochemical abnormality.