Systematic Analysis and Network Mapping of Disease Associations in Autoimmune Polyglandular Syndrome.

IF 5 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Greta Pham-Dobor, Peter Kaltenecker, Viktoria Temesfoi, Laszlo Bajnok, Orsolya Nemes, Beata Bodis, Emese Mezosi
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引用次数: 0

Abstract

Background: The purpose of our work was to provide a data-driven perspective to autoimmune polyglandular syndrome (APS), a complex autoimmune disorder, supplementing traditional clinical observations.

Methods: Medical records of 7559 patients were analyzed, and autoimmune origin was proved in 3180 cases of which 380 (12%) had APS. Associations of component disorders were investigated by computational methods to reveal typical patterns of disease development.

Results: Twenty-eight distinct autoimmune disorders were diagnosed forming 113 combinations. The 10 most frequent combinations were responsible for 51.3% of cases. Hashimoto's thyroiditis (HT) and Graves' disease (GD) were differentiated as the main cornerstones of APS, sharing several comorbidities. HT was the most common manifestation (67.4%), followed by GD (26.8%) and type 1 diabetes mellitus (T1D) (20.8%). APS started significantly earlier in men than in women. Thyroid autoimmunity was frequently linked to gastrointestinal and systemic manifestations, and these patterns of associations substantially differed from that of T1D, Addison's disease, or coeliac disease when present as first manifestations, suggesting the possibility of a common biological cause.

Conclusion: APS is more frequent than reported. Classifying APS requires a shift of perspective toward disease associations rather than disorder prevalence.

自身免疫性多腺综合征疾病关联的系统分析和网络映射。
背景:我们的工作旨在为 APS 这一复杂的自身免疫性疾病提供一个数据驱动的视角,以补充传统的临床观察:方法:分析了 7559 名患者的医疗记录,其中 3180 例证实了自身免疫起源,380 例(12%)患有 APS。通过计算方法研究了组成疾病的关联性,以揭示疾病发展的典型模式:结果:共诊断出 28 种不同的自身免疫性疾病,形成 113 种组合。最常见的 10 种组合占病例总数的 51.3%。高热惊厥和高热惊厥被区分为 APS 的主要基石,它们有多种并发症。高血压是最常见的表现(67.4%),其次是糖尿病(26.8%)和 T1D(20.8%)。男性的APS起病明显早于女性。甲状腺自身免疫常常与胃肠道和全身表现有关,这些关联模式与T1D、AD或CeD作为首发表现时的关联模式有很大不同,这表明可能存在共同的生物学原因:结论:APS 的发病率比报道的要高。对 APS 进行分类需要将视角转向疾病关联而非疾病流行。
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来源期刊
Journal of Clinical Endocrinology & Metabolism
Journal of Clinical Endocrinology & Metabolism 医学-内分泌学与代谢
CiteScore
11.40
自引率
5.20%
发文量
673
审稿时长
1 months
期刊介绍: The Journal of Clinical Endocrinology & Metabolism is the world"s leading peer-reviewed journal for endocrine clinical research and cutting edge clinical practice reviews. Each issue provides the latest in-depth coverage of new developments enhancing our understanding, diagnosis and treatment of endocrine and metabolic disorders. Regular features of special interest to endocrine consultants include clinical trials, clinical reviews, clinical practice guidelines, case seminars, and controversies in clinical endocrinology, as well as original reports of the most important advances in patient-oriented endocrine and metabolic research. According to the latest Thomson Reuters Journal Citation Report, JCE&M articles were cited 64,185 times in 2008.
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