施密特综合征:自发性低血糖症的罕见病因。

Avicenna Journal of Medicine Pub Date : 2024-02-27 eCollection Date: 2024-04-01 DOI:10.1055/s-0044-1779745
George Sarin Zacharia, Anu Jacob, Binu Mary Bose
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引用次数: 0

摘要

施密特综合征或自身免疫性多内分泌综合征2型(APS-2)是一种不常见的疾病,其特点是同时出现自身免疫性甲状腺炎和肾上腺炎。APS-2 被定义为阿狄森氏病、自身免疫性甲状腺疾病和/或 1 型糖尿病的综合征。它是一种常染色体显性遗传的多基因疾病,具有不完全渗透性;候选基因包括但不限于 HLA-DR3、HLA-DR4、CTLA-4、PTPN22 和 CD25-IL-2。自身免疫性甲状腺炎(通常是桥本氏病)会导致甲状腺功能减退。原发性肾上腺功能衰竭会导致促肾上腺皮质激素黑色素细胞分泌增强,并同时分泌黑色素细胞刺激素,导致色素沉着。矿质皮质激素缺乏会导致盐分消耗、疲劳和痉挛、体位性低血压和高钾血症。皮质醇是一种胰岛素反调节激素,在维持优格血糖中起着关键作用;缺乏皮质醇易导致低血糖。我们在此报告了一名中年男性患者罕见的施密特综合征表现为低胰岛素血症性低血糖。治疗包括使用葡萄糖或胰高血糖素治疗急性低血糖发作,长期使用糖皮质激素和矿物质皮质激素治疗肾上腺功能不全,以及补充甲状腺激素治疗甲状腺功能减退症。本病例报告和简要概述旨在为科学界了解施密特综合征/APS-2 做出贡献。此外,我们还在此简要概述了低血糖评估中的诊断难题,包括惠普尔三联征的应用、72 小时禁食的黄金标准以及原发性肾上腺和甲状腺功能不全的评估。
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Schmidt's Syndrome: An Uncommon Cause of Spontaneous Hypoglycemia.

Schmidt's syndrome, or autoimmune polyendocrine syndrome type 2 (APS-2), is an uncommon disorder characterized by the co-occurrence of autoimmune thyroiditis and adrenalitis. APS-2 is defined as a combination of Addison's disease, autoimmune thyroid disease, and/or type 1 diabetes mellitus. It is an autosomal dominantly inherited polygenic disorder with incomplete penetrance; the candidate genes include but are not limited to HLA-DR3, HLA-DR4, CTLA-4, PTPN22, and CD25-IL-2. Autoimmune thyroiditis, often Hashimoto's disease, results in hypothyroidism. Primary adrenal failure results in enhanced secretion of adrenocorticotrophic hormone melanocyte and co-secretion of melanocyte-stimulating hormone, contributing to hyperpigmentation. Mineralocorticoid deficiency results in salt wasting, fatigue and cramps, postural hypotension, and hyperkalemia. Cortisol, an insulin counter-regulatory hormone, plays a pivotal role in maintaining euglycemia; deficiency predisposes to the development of hypoglycemia. We here report a rare presentation of Schmidt's syndrome as hypoinsulinemic hypoglycemia in a middle-aged male patient. Management includes treatment of acute hypoglycemic episodes with glucose or glucagon, long-term glucocorticoids and mineralocorticoids for adrenal insufficiency, and thyroid hormone supplements for hypothyroidism. This case report and brief overview aim to contribute to the scientific understanding of Schmidt's syndrome/APS-2. Additionally, here we briefly outline the diagnostic challenges in hypoglycemia evaluation, including the utilization of Whipple's triad and the gold standard supervised 72-hour fast and evaluation for primary adrenal and thyroid insufficiencies.

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