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19岁肾上腺皮质功能不全患者——冰山一角。Ⅱ型多内分泌自身免疫综合征(施密特综合征)

[19-year-old patient with adrenal cortex insufficiency--only the tip of the iceberg. Polyendocrine autoimmune syndrome type II (Schmidt syndrome)].

作者信息

Lipowsky C, Schorl-Schweikardt B A, Kehl Oth, Brändle M

机构信息

Fachbereich für Endokrinologie und Diabetologie, Departement für Innere Medizin, Kantonsspital St. Gallen.

出版信息

Praxis (Bern 1994). 2008 Jan 23;97(2):77-81. doi: 10.1024/1661-8157.97.2.77.

Abstract

We report on a 19-year-old woman with polyglandular autoimmune syndrome type II (APS II). She was diagnosed with addison's disease and hypothyroidism due to chronic autoimmune thyroiditis. Her mother had celiac disease and her brohter had diabetes mellitus typ 1. Chronic autoimmune thyroiditis was diagnosed in her mother, subsequently. In patients and their relatives, who have autoimmune disorders, a search for autoimmune polyglandular syndrome is crucial. Consequently, it would be appropriate that the patient and all family members are asked for clinical signs and symptoms of autoimmune disorders. Annual measurement of morning cortisol, TSH and fasting plasma glucose may useful. Screening of affected individuals as well as their first-degree relatives for celiac disease is recommended. Therapy of APS II consists of hormone replacement therapy, but thyroxin replacement may induce life-threatening adrenal failure in a patient with untreated Addison's disease. Thus, in case of doubt hydrocortisone should be given before the thyroxine administration is started.

摘要

我们报告了一名患有Ⅱ型多腺体自身免疫综合征(APSⅡ)的19岁女性。她因慢性自身免疫性甲状腺炎被诊断为艾迪生病和甲状腺功能减退症。她的母亲患有乳糜泻,她的哥哥患有1型糖尿病。随后,她的母亲也被诊断出患有慢性自身免疫性甲状腺炎。对于患有自身免疫性疾病的患者及其亲属,寻找自身免疫性多腺体综合征至关重要。因此,询问患者及其所有家庭成员自身免疫性疾病的临床体征和症状是合适的。每年测量早晨皮质醇、促甲状腺激素(TSH)和空腹血糖可能会有帮助。建议对受影响的个体及其一级亲属进行乳糜泻筛查。APSⅡ的治疗包括激素替代疗法,但甲状腺素替代疗法可能会在未治疗的艾迪生病患者中引发危及生命的肾上腺功能衰竭。因此,如有疑问,应在开始给予甲状腺素之前给予氢化可的松。

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