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自身免疫性 Addison 病患者一级亲属内分泌自身免疫风险增加。

Increased risk of endocrine autoimmunity in first-degree relatives of patients with autoimmune Addison's disease.

机构信息

Department of Endocrinology, Metabolism and Internal Medicine, Poznań University of Medical Sciences, Poznan, Poland.

Central Laboratory of the Poznan University of Medical Sciences Paediatric Hospital, Poznan, Poland.

出版信息

Eur J Endocrinol. 2020 Jul;183(1):73-81. doi: 10.1530/EJE-20-0150.

Abstract

OBJECTIVE

Autoimmune conditions tend to cluster in subjects with Addison's disease (AD) and probably also among their relatives. The aim of the study was to estimate the frequency of the endocrine gland-specific autoantibodies in first-degree relatives of patients with AD.

METHODS

Autoantibodies were investigated in 113 family members using RIA and ELISA assays. The control group comprised 143 age-matched volunteers.

RESULTS

Autoimmune diseases were diagnosed in 38.1% relatives. Hashimoto's thyroiditis was found in 20.3%, Graves' disease in 8.0%, vitiligo and type 1 diabetes in 3.5%, whereas AD, rheumatoid arthritis and atrophic gastritis with pernicious anaemia in 2.7% each. All studied antibodies except for islet antigen-2 (P = 0.085) were significantly more frequent in AD relatives than in controls (P < 0.05). Antibodies to 21-hydroxylase were detected in 6.2% relatives, thyroid peroxidase in 28.3%, thyroglobulin in 19.5%, glutamic acid decarboxylase in 8.0%, and zinc transporter-8 in 7.1%. Two and more autoantibodies were detected in 18.6% subjects. Significant gender difference was revealed only for aTPO, more common in female relatives (P = 0.014; OR: 3.16; 95% CI: 1.23-8.12). Circulating autoantibodies were found more frequently in the relatives of affected males (P = 0.008; OR: 3.31; 95% CI: 1.33-8.23), and in family members of patients with polyendocrine autoimmunity (P = 0.009; OR: 3.55; 95% CI: 1.31-9.57).

CONCLUSIONS

This study provides evidence of increased susceptibility for the endocrine autoimmunity, especially thyroid disease, in close relatives of patients with AD. Relatives of the male AD patients and of those with autoimmune polyendocrine syndrome are at particular risk and should undergo periodic screening for autoimmune endocrine disorders.

摘要

目的

自身免疫性疾病往往在 Addison 病(AD)患者及其亲属中聚集。本研究旨在评估 AD 患者一级亲属内分泌腺特异性自身抗体的频率。

方法

采用 RIA 和 ELISA 检测 113 名家庭成员的自身抗体。对照组由 143 名年龄匹配的志愿者组成。

结果

38.1%的亲属被诊断患有自身免疫性疾病。桥本甲状腺炎 20.3%,Graves 病 8.0%,白癜风和 1 型糖尿病 3.5%,而 AD、类风湿关节炎和萎缩性胃炎伴恶性贫血各 2.7%。除胰岛抗原-2(P=0.085)外,所有研究抗体在 AD 亲属中均显著高于对照组(P<0.05)。在 6.2%的亲属中检测到 21-羟化酶抗体,在 28.3%的亲属中检测到甲状腺过氧化物酶抗体,在 19.5%的亲属中检测到甲状腺球蛋白抗体,在 8.0%的亲属中检测到谷氨酸脱羧酶抗体,在 7.1%的亲属中检测到锌转运蛋白-8 抗体。18.6%的受试者检测到两种或更多种自身抗体。仅发现 aTPO 存在显著的性别差异,女性亲属更为常见(P=0.014;OR:3.16;95%CI:1.23-8.12)。在受影响男性亲属(P=0.008;OR:3.31;95%CI:1.33-8.23)和多内分泌自身免疫综合征患者亲属(P=0.009;OR:3.55;95%CI:1.31-9.57)中,循环自身抗体更为常见。

结论

本研究为 AD 患者的直系亲属易患内分泌自身免疫性疾病,尤其是甲状腺疾病,提供了证据。AD 男性患者和自身免疫性多内分泌综合征患者的亲属风险尤其高,应定期筛查自身免疫性内分泌疾病。

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