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Triple A syndrome mimicking cystic fibrosis
1Department of Pediatrics, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
Insights
Triple A syndrome, a rare disorder, can mimic cystic fibrosis symptoms and cause elevated sweat chloride levels. Adrenal replacement therapy normalized these levels, highlighting the importance of considering non-CF conditions.
Area of Science:
- Pediatric Endocrinology
- Rare Genetic Disorders
- Metabolic Medicine
Background:
- The case presents a pediatric patient with symptoms overlapping with cystic fibrosis (CF), including failure to thrive, developmental delay, and recurrent diarrhea.
- The patient exhibited elevated sweat chloride concentration, a key diagnostic marker for CF.
Observation:
- Mucosal hyperpigmentation prompted further investigation, leading to the diagnosis of adrenal insufficiency.
- Adrenal insufficiency was identified as a component of the rare Triple A syndrome (achalasia, alacrima, adrenal insufficiency).
Findings:
- Elevated sweat chloride concentration in this patient normalized following the initiation of adrenal replacement therapy.
- This suggests a potential link between adrenal function and sweat chloride levels in Triple A syndrome.
Implications:
- Non-CF conditions should be considered in the differential diagnosis of elevated sweat chloride concentration, especially in patients with atypical presentations.
- This case underscores the importance of a comprehensive diagnostic approach beyond CF, particularly when pulmonary or pancreatic exocrine disease is absent.
Abstract:
We report a 2-8/12 year-old male who presented with symptoms resembling cystic fibrosis (failure to thrive, developmental delay and recurrent diarrhea) and had elevated sweat chloride concentration. Mucosal hyperpigmentation led to the diagnosis of adrenal insufficiency which was ultimately shown to be a component of triple A syndrome (achalasia, alacrima, adrenal insufficiency). Elevated sweat chloride concentration normalized after initiation of adrenal replacement therapy. We suggest that non-CF conditions causing elevated sweat chloride concentration should be considered in patients with atypical findings or who do not have objective evidence of pulmonary or exocrine pancreatic disease.