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|Title:||Recalcitrant hypocalcaemia in autoimmune enteropathy|
|Citation:||Pediatrics, 2014; 134(6):e1720-e1726|
|Publisher:||American Academy of Pediatrics|
|Myfanwy Geyer, Jan Fairchild, David Moore, Lynette Moore, Paul Henning, and Elaine Tham|
|Abstract:||Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome is a monogenic disorder associated with autoimmune destruction of both endocrine and nonendocrine tissues. The classic triad includes candidiasis, hypoparathyroidism, and Addison disease. Up to 25% of patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome also have gastrointestinal manifestations, which can have an impact on the management of other aspects of the disease. The management of the case discussed was challenging because of the complex interplay between the manifestations and treatment of his hypoparathyroidism, Addison disease, and autoimmune enteropathy. Attempts at management of hypocalcemia were largely unsuccessful until the introduction of immunosuppressive therapy for autoimmune enteropathy. This case supports early consideration of immunosuppression in this condition.|
|Keywords:||Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome; APECED; autoimmune polyendocrinopathy syndrome 1; APS-1; autoimmune enteropathy; enteroendocrine cells; hypocalcaemia|
|Rights:||© 2014 by the American Academy of Pediatrics|
|Appears in Collections:||Paediatrics publications|
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