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[施密特综合征:拉丁美洲背景下的疑难诊断]

[Schmidt’s syndrome: a difficult diagnosis in the Latin American context].

作者信息

Barreda-Velit Claudia, Salcedo-Pereda Rodrigo, Ticona Jesús

机构信息

Facultad de Ciencias de la Salud, Escuela de Medicina, Departamento de Investigación. Lima, Perú

出版信息

Rev Med Inst Mex Seguro Soc. 2018 Mar-Apr;56(2):189-193.

Abstract

BACKGROUND

Schmidt’s syndrome, also known as poliglandular autoimmune syndrome type 2, is a rare disease that has a prevalence between 1.5-4.5 cases per 100 000 inhabitants. The diagnosis consists in the concomitant presentation of Addison disease, autoimmune thyroid disease and other autoimmune endocrinological conditions. The aim of this paper is to describe a case of Schmidt’s syndrome in the peruvian context and to analyze the difficulties in the diagnosis.

CLINICAL CASE

We present the case of a 43-year-old woman that presents to the emergency room with headache, nausea, vomits and a “syncope episode”. The patient had a history of secondary amenorrhea, Addison disease, hypothyroidism, osteoporosis and diabetes mellitus type 2. Physical exam showed hyperpigmentation, hypotension and bradycardia. Lab exams demonstrated leukocytosis, hyponatremia, hyperglycemia, and compensated metabolic alkalosis. The emergency management consisted on rehydration, corticoids and insulin. During the hospital stance, exams included follicle stimulation hormone increasement and vaginal echography determined uterine hypoplasia. The patient was discharged one month later with Schmidt’s syndrome, based on autoimmune thyroiditis, Addison’s disease and hypergonadotrophic hypogonadism. In a two week later control, the patient was asymptomatic with levothyroxine, fluodrocortisone, estradiol and insulin treatment.

CONCLUSIONS

In our context, Schmidt’s syndrome is a very rare disease, which leads to a late diagnosis and difficult management.

摘要

背景

施密特综合征,也称为2型多腺体自身免疫综合征,是一种罕见疾病,每10万居民中的患病率在1.5至4.5例之间。诊断包括艾迪生病、自身免疫性甲状腺疾病和其他自身免疫性内分泌疾病同时出现。本文的目的是描述秘鲁背景下的一例施密特综合征病例,并分析诊断中的困难。

临床病例

我们报告一例43岁女性,因头痛、恶心、呕吐和“晕厥发作”就诊于急诊室。患者有继发性闭经、艾迪生病、甲状腺功能减退、骨质疏松症和2型糖尿病病史。体格检查显示色素沉着、低血压和心动过缓。实验室检查显示白细胞增多、低钠血症、高血糖和代偿性代谢性碱中毒。急诊处理包括补液、使用皮质类固醇和胰岛素。住院期间,检查包括促卵泡生成素升高和经阴道超声检查确定子宫发育不全。患者一个月后出院,诊断为施密特综合征,基于自身免疫性甲状腺炎、艾迪生病和高促性腺激素性性腺功能减退。在两周后的复查中,患者在接受左甲状腺素、氟氢可的松、雌二醇和胰岛素治疗后无症状。

结论

在我们的背景下,施密特综合征是一种非常罕见的疾病,导致诊断延迟和治疗困难。

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