title: Recalcitrant hypocalcaemia in autoimmune enteropathy.
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.
authors.affiliation: Departments of Endocrinology and Diabetes, myfanwy.geyer@health.sa.gov.au.
authors.forename: Myfanwy
authors.initials: M
authors.lastname: Geyer
authors.affiliation: Departments of Endocrinology and Diabetes.
authors.forename: Jan
authors.initials: J
authors.lastname: Fairchild
authors.affiliation: Gastroenterology, University of Adelaide, Adelaide, South Australia.
authors.forename: David
authors.initials: D
authors.lastname: Moore
authors.affiliation: Surgical Pathology, and.
authors.forename: Lynette
authors.initials: L
authors.lastname: Moore
authors.affiliation: Nephrology, Women's and Children's Hospital, Adelaide, South Australia; and.
authors.forename: Paul
authors.initials: P
authors.lastname: Henning
authors.affiliation: Departments of Endocrinology and Diabetes.
authors.forename: Elaine
authors.initials: E
authors.lastname: Tham
mesh_terms: D000293:Adolescent; D001379:Azathioprine / Q000627:therapeutic use; D001706:Biopsy; D002117:Calcitriol / Q000627:therapeutic use; D019355:Calcium Citrate / Q000627:therapeutic use; D002675:Child, Preschool; D016572:Cyclosporine / Q000627:therapeutic use; D057915:Drug Substitution; D004359:Drug Therapy, Combination; D006801:Humans; D006996:Hypocalcemia / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007413:Intestinal Mucosa / Q000473:pathology; D008137:Longitudinal Studies; D008297:Male; D016884:Polyendocrinopathies, Autoimmune / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D012640:Seizures / Q000175:diagnosis / Q000188:drug therapy
chemical_list: D007166:Immunosuppressive Agents; D016572:Cyclosporine; D002117:Calcitriol; D019355:Calcium Citrate; D001379:Azathioprine
keywords: APECED; APS-1; autoimmune enteropathy; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome; autoimmune polyendocrinopathy syndrome 1; enteroendocrine cells; hypocalcaemia