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本文引用的文献

1
Graves' ophthalmopathy.格雷夫斯眼病。
N Engl J Med. 2010 Feb 25;362(8):726-38. doi: 10.1056/NEJMra0905750.
2
Smoking increases rheumatoid arthritis susceptibility in individuals carrying the HLA-DRB1 shared epitope, regardless of rheumatoid factor or anti-cyclic citrullinated peptide antibody status.吸烟会增加携带HLA - DRB1共同表位的个体患类风湿性关节炎的易感性,无论其类风湿因子或抗环瓜氨酸肽抗体状态如何。
Arthritis Rheum. 2010 Feb;62(2):369-77. doi: 10.1002/art.27272.
3
Genetics of thyroid autoimmunity and the role of the TSHR.甲状腺自身免疫的遗传学与 TSHR 的作用。
Mol Cell Endocrinol. 2010 Jun 30;322(1-2):135-43. doi: 10.1016/j.mce.2010.01.013. Epub 2010 Jan 18.
4
Soluble CTLA-4 receptor an immunological marker of Graves' disease and severity of ophthalmopathy is associated with CTLA-4 Jo31 and CT60 gene polymorphisms.可溶性CTLA-4受体作为Graves病和眼病严重程度的免疫标志物,与CTLA-4 Jo31和CT60基因多态性相关。
Eur J Endocrinol. 2009 Nov;161(5):787-93. doi: 10.1530/EJE-09-0600. Epub 2009 Sep 4.
5
Thyroid-associated ophthalmopathy after treatment for Graves' hyperthyroidism with antithyroid drugs or iodine-131.使用抗甲状腺药物或碘-131治疗格雷夫斯甲亢后出现的甲状腺相关眼病。
J Clin Endocrinol Metab. 2009 Oct;94(10):3700-7. doi: 10.1210/jc.2009-0747. Epub 2009 Sep 1.
6
Graves' ophthalmopathy and gene polymorphisms in interleukin-1alpha, interleukin-1beta, interleukin-1 receptor and interleukin-1 receptor antagonist.格雷夫斯眼病与白细胞介素-1α、白细胞介素-1β、白细胞介素-1受体及白细胞介素-1受体拮抗剂的基因多态性
Clin Exp Ophthalmol. 2009 Aug;37(6):614-9. doi: 10.1111/j.1442-9071.2009.02093.x.
7
Graves' orbitopathy activation after radioactive iodine therapy with and without steroid prophylaxis.放射性碘治疗伴或不伴类固醇预防后的格雷夫斯眼眶病激活
J Clin Endocrinol Metab. 2009 Sep;94(9):3381-6. doi: 10.1210/jc.2009-0506. Epub 2009 Jun 30.
8
Effects of active and passive smoking on disease course of Crohn's disease and ulcerative colitis.主动吸烟和被动吸烟对克罗恩病及溃疡性结肠炎病程的影响。
Inflamm Bowel Dis. 2009 Aug;15(8):1199-207. doi: 10.1002/ibd.20884.
9
Prevalence, risk factors, and clinical features of thyroid-associated ophthalmopathy in multiethnic Malaysian patients with Graves' disease.马来西亚多民族格雷夫斯病患者甲状腺相关性眼病的患病率、危险因素及临床特征
Thyroid. 2008 Dec;18(12):1297-301. doi: 10.1089/thy.2008.0044.
10
The Pro 12 Ala PPAR gamma gene polymorphism: possible modifier of the activity and severity of thyroid-associated orbitopathy (TAO).Pro12Ala 过氧化物酶体增殖物激活受体γ基因多态性:甲状腺相关眼病(TAO)活动度和严重程度的可能调节因素。
Clin Endocrinol (Oxf). 2009 Mar;70(3):464-8. doi: 10.1111/j.1365-2265.2008.03343.x. Epub 2008 Jul 7.

格雷夫斯眼病发生或恶化的危险因素。

Risk factors for development or deterioration of Graves' ophthalmopathy.

机构信息

Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.

出版信息

Thyroid. 2010 Jul;20(7):777-83. doi: 10.1089/thy.2010.1634.

DOI:10.1089/thy.2010.1634
PMID:20578901
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3357079/
Abstract

BACKGROUND

Graves' ophthalmopathy (GO) significantly impairs the quality of life of affected individuals and the most severe cases can be sight threatening. Given the limited therapeutic options, a strong emphasis should be placed on disease prevention to diminish the significant morbidity associated with this disease.

SUMMARY

GO is most prevalent in women and most severe in men. Although some genetic differences between GO patients and Graves' disease patients without ophthalmopathy have been identified, none of the polymorphisms identified to date impart a high enough risk of GO to justify genetic testing to guide therapy or preventive strategies. Poorly defined mechanical factors that appear also to play a role in GO susceptibility will likely be better elucidated with advances in imaging techniques. Tobacco smoking has been consistently linked to development or deterioration of GO. Smokers who receive radioactive iodine have the highest incidence of unfavorable GO outcome, which is proportional to the number of cigarettes smoked per day. Several studies have reported an association between radioactive iodine treatment for Graves' disease and worsening or development of GO. Observational studies suggest that the same appears to be true for thyroid dysfunction, including both hyper- and hypothyroidism. While thyrotropin receptor antibody levels appear to be useful in predicting the course of disease and response to therapy, it is not known whether they are predictive of GO development. The puzzling scenarios of euthyroid or clinically unilateral GO, the large number of nonsmoking GO patients, and the occasional development of GO years after thyroid dysfunction has been treated all underline the multifactorial etiology of this disorder in which no single factor determines the clinical outcome.

CONCLUSIONS

GO appears to have a complex genetic basis with multiple susceptibility alleles that act in combination with nongenetic factors to contribute to disease expression.

摘要

背景

格雷夫斯眼病(GO)显著降低了患者的生活质量,严重者可导致视力受损。鉴于治疗方法有限,应高度重视疾病预防,以降低与该病相关的高发病率。

总结

GO 最常发生于女性,在男性中最严重。尽管已经确定了 GO 患者与无眼病格雷夫斯病患者之间的一些遗传差异,但迄今为止发现的任何多态性都没有给 GO 带来足够高的风险,因此无法进行遗传检测来指导治疗或预防策略。一些尚未明确的机械因素似乎也在 GO 的易感性中发挥作用,随着成像技术的进步,这些因素将得到更好的阐明。吸烟一直与 GO 的发生或恶化有关。接受放射性碘治疗的吸烟者发生不良 GO 结局的几率最高,与每天吸烟的支数成正比。几项研究报告了 Graves 病放射性碘治疗与 GO 恶化或发生之间的关联。观察性研究表明,甲状腺功能障碍也是如此,包括甲状腺功能亢进和甲状腺功能减退。虽然促甲状腺激素受体抗体水平似乎可用于预测疾病过程和治疗反应,但尚不清楚它们是否可预测 GO 的发生。甲状腺功能正常或临床单侧 GO、大量不吸烟的 GO 患者以及甲状腺功能障碍治疗后数年偶尔发生 GO 等令人费解的情况,都突显了这种疾病的多因素病因,其中没有单一因素决定临床结局。

结论

GO 似乎具有复杂的遗传基础,多个易感等位基因与非遗传因素共同作用,导致疾病表现。