Triple A syndrome mimicking cystic fibrosis.
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.
Cesur
Y
Y
Department of Pediatrics, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
Bereket
A
A
Anadol
D
D
Kiper
N
N
Gocmen
A
A
Yordam
N
N
D000311:Adrenal Glands / Q000503:physiopathology*; D002675:Child, Preschool; D002712:Chlorides / Q000032:analysis; D003550:Cystic Fibrosis / Q000175:diagnosis*; D003937:Diagnosis, Differential; D004931:Esophageal Achalasia / Q000150:complications*; D006801:Humans; D008297:Male; D013542:Sweat / Q000737:chemistry; D013577:Syndrome; D013666:Tears / Q000378:metabolism*
D002712:Chlorides