Background: Autoimmune polyendocrinopathycandidiasisectodermal dystrophy (APECED), is a rare inherited disease of childhood, caused by the mutation of the AIRE gene on chromosome 21. It is characterized by three main diseases: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (HP), and Addisons disease (AD), and can be associated with other autoimmune diseases and/or manifestations of ectodermal dystrophy.
Case presentation: A 8-year-old girl, who was known to have HP and she was treated with calcium and calcitriol, presented at the Endocrinology Department, complaining of fatigue and abdominal pain for 5 days, without vomiting, nor fever. On examination she was pale with poor skin turgor, low normal blood pressure, and mildly tachycardic. The initial blood investigation revealed hypercalcaemia, hyponatremia, and hyperkalemia which suggested the possibility of adrenal failure. ACTH and cortisol levels, PRA, aldosterone, and anti-adrenal antibodies were requested. The patient was immediately treated with hydrocortisone, with marked clinical improvement. Calcium supplementation was initially discontinued and restarted after 24 h of hydrocortisone replacement. Lab results are as follows: Na: 125 mEq/l; K: 5.8 mEq/l; Ca: 11.6 mg/dl; cortisol: 5.84 μg/dl; ACTH: 3465 pg/ml; PRA: 148.2 ng/ml per h; and anti-androgen antibodies: positive. She was followed regularly, having nl electrolytes and low normal calcium. Eight months later a candidiasis scalp lesion was detected. In summary, this patient is diagnosed with HP, AD, and CMC, indicating the diagnosis of APECED. Molecular genetic analysis is anticipated.
Conclusion: The presence of abdominal pain and hypercalcaemia in a patient with hypoparathyroidism should raise the suspicion of adrenal insufficiency which has to be investigated and treated on an emergency basis. Moreover, as the timing of the appearance of the individual disorders varies, a high level of suspicion regarding the development of associated endocrinopathies in particular adrenal failure, as well as informing parents of the possible symptoms is of outmost importance.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology