Addison's disease - the difficulty of diagnosis
Keywords:Addison’s disease, adrenal insufficiency, autoimmune, gastrointestinal symptoms
Introduction: Primary adrenal insufficiency is a rare disease, especially in pediatric age.
Case report: We report the case of a teenager with astenia with four months’ evolution, causing repeated visits to the emergency department during the previous month due gastrointestinal symptoms and a ten kilograms weight loss. In admission the patient had a reasonable general condition, hydrated and without cutaneous hyperpigmentation. Laboratory results showed hyponatremia, increased levels of corticotropin with normal cortisol levels, increased levels of renin with decreased aldosterone levels and presence of antissuprarrenal antibodies, allowing the diagnosis of autoimmune primary adrenal insufficiency. The boy started treatment with hydrocortisone and fludrocortisone with favorable response.
Discussion/conclusions: The diagnosis of Addison’s disease requires a high degree of suspicion due its unspecific symptomatology. This disease often presents gastrointestinal symptoms. Thus, towards a patient with hyponatremia accompanied by constitutional and gastrointestinal symptoms, we must always consider this diagnosis.
Auron M, Raissouni N. Adrenal Insufficiency. Pediatrics in Review 2015; 36:92-102.
Bornstein SR, Allolio B, Arlt W, Barthel A, Don-Wauchope A, Hammer GD, et al. Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 2016; 101:364.
Stewart PM, Krone NP. The Adrenal Cortex. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM. Williams Textbook of Endocrinology. 12th ed. Philadelphia: Elsevier Inc; 2011. p.479-544.
Perry R, Kecha O, Paquette J, Huot C, Van Vliet G, Deal C. Primary adrenal insufficiency in children: twenty years experience at the Sainte-Justine Hospital, Montreal. J Clin Endocrinol Metab 2005; 90:3243-50.
Moser HW. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain 1997; 120:1485-508
Miller WL, Flück CE. Adrenal cortex and its disorders. In: Sperling MA. Pediatric Endocrinology. 4th ed. Philadelphia: Elsevier Inc; 2014. p. 471-532.
Eisenbarth GS, Gottlieb PA. Autoimmune Polyendocrine Syndromes. N Engl J Med 2004; 350:2068-2079.
Porter J, Blair J, Ross RJ. Is physiological glucocorticoid replacement important in children? Arch Dis Child 2016; 0:1-7.
Carvalho MR, Russo T, Robalo B, Pereira C, Sampaio ML. Doença de Adisson na Infância. Acta Pediatr Port 2012; 43:210-4.
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