Diagnostic difficulties of Addison's disease in children: a case report

Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche

article

Celeste Casto¹  Giorgia Pepe¹  Tommaso Aversa¹  Mariella Valenzise¹  Malgorzata Wasniewska¹ 

[1] Department of Human Pathology of Adulthood and Childhood, University of Messina.

关键词: Addison’s disease;    primary adrenal insufficiency;    autoimmune adrenalitis;    anorexia nervosa;    eating disorders;   

DOI  :  10.6092/1828-6550/APMB.108.1.2020.CCS2

学科分类：农业科学（综合）

来源: Accademia Peloritana dei Pericolanti

【 摘 要 】

Addison’s disease is a rare chronic endocrine disorder resulting from primary adrenal insufficiency. Symptoms are non-specific and can arise insidiously, including asthenia, muscular weakness, weight loss, irritability, depression, loss of appetite, dyspepsia, nausea and vomiting. A peculiar clinical sign of Addison’s disease is hyperpigmentation of skin and mucous membrane due to overproduction of pro-opiomelanocortin (POMC), precursor of ACTH and MSH (melanocyte stimulating hormone). Without therapy or in the course of triggering events such as infections, surgery or trauma the presentation can be dramatic and may cause an adrenal crisis, a potentially lethal medical emergency. Biochemical investigations are essential for diagnosis and commonly reveals electrolyte abnormalities (hyponatraemia and hyperkalaemia), hypoglycaemia, reduced cortisol levels and increased levels of ACTH. The lack of response to ACTH stimulation test confirms the primary adrenal insufficiency. Treatment for Addison's disease is based on replacing missing cortisol, the most commonly used drug is hydrocortisone often in association with fludrocortisone as replacement for the missing aldosterone. Due to its non-specific presentation, identification of this condition is difficult and can be confused with other disorders, for example eating disorders. We report a case of a young boy with Addison’s disease mistaken for anorexia nervosa.

【 授权许可】

CC BY