Geyer Myfanwy, Fairchild Jan, Moore David, Moore Lynette, Henning Paul, Tham Elaine
Departments of Endocrinology and Diabetes,
Departments of Endocrinology and Diabetes.
Pediatrics. 2014 Dec;134(6):e1720-6. doi: 10.1542/peds.2013-3308. Epub 2014 Nov 17.
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.
自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良综合征是一种单基因疾病,与内分泌和非内分泌组织的自身免疫性破坏相关。经典三联征包括念珠菌病、甲状旁腺功能减退和艾迪生病。高达25%的自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良综合征患者也有胃肠道表现,这可能会影响该疾病其他方面的管理。由于该患者甲状旁腺功能减退、艾迪生病和自身免疫性肠病的表现与治疗之间存在复杂的相互作用,该病例的管理具有挑战性。在针对自身免疫性肠病引入免疫抑制治疗之前,治疗低钙血症的尝试大多未成功。该病例支持在这种情况下尽早考虑免疫抑制治疗。