Dayal Devi, Pepper Olivia, Ramakrishnan Renuka, Baildam Eileen, Dharmaraj Poonam, Cleary Gavin, McCann Liza, Pain Clare, Senniappan Senthil
Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
Department of Paediatric Rheumatology, Alder Hey Children's Hospital, Liverpool, UK.
Int J Endocrinol Metab. 2017 Aug 22;15(4):e57199. doi: 10.5812/ijem.57199. eCollection 2017 Oct.
Sarcoidosis is a multisystemic granulomatous disease with diverse and often non-specific symptoms during childhood. The clinical manifestations sometimes include endocrinopathies related to sarcoid infiltration of various endocrine organs, but more commonly due to the associated autoimmune endocrine disorders. There are only a few reports of multiple autoimmune and non-autoimmune endocrine problems occurring simultaneously in patients with sarcoidosis. We report a girl with probable sarcoidosis who also had Hashimoto's thyroiditis, Type 1 diabetes (T1D) and secondary adrenal insufficiency.
A 9-year-old girl previously diagnosed with autoimmune hypothyroidism and vitamin D deficiency, presented with hypercalcemic pancreatitis after initiating vitamin D supplementation that lead to a diagnosis of probable sarcoidosis. Secondary adrenal insufficiency and T1D were subsequently diagnosed. Her angiotensin converting enzyme levels on 2 occasions were 106 and 135 nmol/mL/min (normal range 10 - 43). All investigations conducted to exclude several infectious and malignant conditions that may mimic sarcoidosis were negative. The patient showed a good response to treatment with hydrocortisone, levothyroxine, insulin and methotrexate.
To our knowledge, ours is the youngest ever patient reported in the literature with sarcoidosis to develop multiple autoimmune and non-autoimmune endocrinopathies.
结节病是一种多系统肉芽肿性疾病，在儿童期有多种且往往是非特异性的症状。临床表现有时包括与结节病浸润各种内分泌器官相关的内分泌病，但更常见的是由于相关的自身免疫性内分泌疾病。仅有少数关于结节病患者同时出现多种自身免疫性和非自身免疫性内分泌问题的报道。我们报告一名可能患有结节病的女孩，她同时还患有桥本甲状腺炎、1型糖尿病（T1D）和继发性肾上腺功能不全。
一名9岁女孩，此前被诊断为自身免疫性甲状腺功能减退和维生素D缺乏，在开始补充维生素D后出现高钙血症性胰腺炎，从而诊断为可能的结节病。随后诊断出继发性肾上腺功能不全和T1D。她的血管紧张素转换酶水平两次分别为106和135 nmol/mL/分钟（正常范围10 - 43）。为排除可能模仿结节病的几种感染性和恶性疾病而进行的所有检查均为阴性。该患者对氢化可的松、左甲状腺素、胰岛素和甲氨蝶呤治疗反应良好。
据我们所知，我们报告的是文献中报道的最年轻的患有结节病并发展为多种自身免疫性和非自身免疫性内分泌病的患者。
