幼年型皮肌炎特异性抗体研究进展

doi:10.7499/j.issn.1008-8830.2106011

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摘要幼年型皮肌炎（juvenile dermatomyositis，JDM）是以近端肌无力和皮疹为主要临床表现的自身免疫疾病，亦可累及多系统、多脏器。肌炎特异性抗体（myositis-specific autoantibodies，MSA）与JDM患者的并发症及预后高度相关。抗Mi-2抗体阳性患者预后较好，临床症状典型；抗MDA5抗体阳性患者多伴发弥漫性间质性肺疾病及皮肤溃疡，肌炎症状轻；抗NXP2抗体阳性患者易合并钙质沉着，该抗体与胃肠出血及穿孔相关；抗TIF1-γ抗体阳性患者有弥漫、顽固的皮损表现；抗SAE抗体在儿童中检出率较低，相关报道较少。该文综述了5种MSA亚型JDM患者的临床表型特点，为JDM患儿的临床治疗和随访管理提供依据。

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	何璐

关键词 ：幼年型皮肌炎, 血清学抗体, 抗Mi-2抗体, 抗MDA5抗体, 抗NXP2抗体, 抗TIF1-γ抗体, 抗SAE抗体, 临床表型, 儿童

Abstract：Juvenile dermatomyositis (JDM) is an autoimmune disease manifesting as proximal muscle weakness and skin rash and can involve multiple systems and visceral organs. Myositis-specific autoantibodies (MSAs) are highly associated with various complications and prognosis in JDM. Patients with anti-Mi-2 antibodies tend to have good prognosis and typical clinical symptoms. Patients with anti-MDA5 antibodies often have diffuse interstitial lung disease and skin ulcer, with mild symptoms of myositis. Patients with anti-NXP2 antibodies often have calcinosis, and such antibodies are associated with gastrointestinal bleeding and perforation. Patients with anti-TIF1-γ antibodies have diffuse and refractory skin lesions. Anti-SAE antibodies are rarely detected in children, with few reports of such cases. This article reviews the features of clinical phenotypes in JDM children with these five types of MSAs, so as to provide a basis for the clinical treatment and follow-up management of children with JDM.

Key words： Juvenile dermatomyositis Serological antibody Anti-Mi-2 antibody Anti-MDA5 antibody Anti-NXP2 antibody Anti-SAE antibody Anti-TIF1-γ antibody Clinical phenotype Child

收稿日期: 2021-06-04

通讯作者: 胡秀芬，女，教授。Email：xfhu2007@163.com。 E-mail: xfhu2007@163.com

作者简介: 何璐，女，硕士研究生，住院医；

引用本文:

何璐. 幼年型皮肌炎特异性抗体研究进展[J]. 中国当代儿科杂志, 2021, 23(10): 1064-1068.

HE Lu. Recent research on myositis-specific autoantibodies in juvenile dermatomyositis[J]. CJCP, 2021, 23(10): 1064-1068.

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	DeWane ME, Waldman R, Lu J. Dermatomyositis: clinical features and pathogenesis[J]. J Am Acad Dermatol, 2020, 82(2): 267-281. PMID: 31279808. DOI: 10.1016/j.jaad.2019.06.1309.
	Bohan A, Peter JB. Polymyositis and dermatomyositis (first of two parts)[J]. N Engl J Med, 1975, 292(7): 344-347. PMID: 1090839. DOI: 10.1056/NEJM197502132920706.
	Betteridge Z, McHugh N. Myositis-specific autoantibodies: an important tool to support diagnosis of myositis[J]. J Intern Med, 2016, 280(1): 8-23. PMID: 26602539. DOI: 10.1111/joim.12451.
	Lundberg IE, Tj?rnlund A, Bottai M, et al. 2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups[J]. Arthritis Rheumatol, 2017, 69(12): 2271-2282. PMID: 29106061. PMCID: PMC5846474. DOI: 10.1002/art.40320.
	Sag E, Kale G, Haliloglu G, et al. Inflammatory milieu of muscle biopsies in juvenile dermatomyositis[J]. Rheumatol Int, 2021, 41(1): 77-85. PMID: 33106894. DOI: 10.1007/s00296-020-04735-w.
	Thompson C, Piguet V, Choy E. The pathogenesis of dermatomyositis[J]. Br J Dermatol, 2018, 179(6): 1256-1262. PMID: 28542733. DOI: 10.1111/bjd.15607.
	Lahouti AH, Christopher-Stine L. Polymyositis and dermatomyositis: novel insights into the pathogenesis and potential therapeutic targets[J]. Discov Med, 2015, 19(107): 463-470. PMID: 26175404.
	Moneta GM, Pires Marafon D, Marasco E, et al. Muscle expression of type I and type II interferons is increased in juvenile dermatomyositis and related to clinical and histologic features[J]. Arthritis Rheumatol, 2019, 71(6): 1011-1021. PMID: 30552836. DOI: 10.1002/art.40800.
	Cassius C, Amode R, Delord M, et al. MDA5+ dermatomyositis is associated with stronger skin type I interferon transcriptomic signature with upregulation of IFN-κ transcript[J]. J Invest Dermatol, 2020, 140(6): 1276-1279.e7. PMID: 31955963. DOI: 10.1016/j.jid.2019.10.020.
	Zhao LJ, Wang Q, Zhou B, et al. The role of immune cells in the pathogenesis of idiopathic inflammatory myopathies[J]. Aging Dis, 2021, 12(1): 247-260. PMID: 33532139. PMCID: PMC7801271. DOI: 10.14336/AD.2020.0410.
	Crotty S. T follicular helper cell differentiation, function, and roles in disease[J]. Immunity, 2014, 41(4): 529-542. PMID: 25367570. PMCID: PMC4223692. DOI: 10.1016/j.immuni.2014.10.004.
	Wilkinson MGL, Radziszewska A, Wincup C, et al. Using peripheral blood immune signatures to stratify patients with adult and juvenile inflammatory myopathies[J]. Rheumatology (Oxford), 2020, 59(1): 194-204. PMID: 31292651. DOI: 10.1093/rheumatology/kez252.
	Targoff IN, Reichlin M. The association between Mi-2 antibodies and dermatomyositis[J]. Arthritis Rheum, 1985, 28(7): 796-803. PMID: 2409985. DOI: 10.1002/art.1780280711.
	14 王涛, 石景丽, 张亚妹, 等. 抗Mi-2抗体不同亚型的临床异质性研究[J]. 中日友好医院学报, 2017, 31(1): 7-10. DOI: 10.3969/j.issn.1001-0025.2017.01.002.
	Rider LG, Shah M, Mamyrova G, et al. The myositis autoantibody phenotypes of the juvenile idiopathic inflammatory myopathies[J]. Medicine (Baltimore), 2013, 92(4): 223-243. PMID: 23877355. PMCID: PMC3721421. DOI: 10.1097/MD.0b013e31829d08f9.
	Nguyen M, Do V, Yell PC, et al. Distinct tissue injury patterns in juvenile dermatomyositis auto-antibody subgroups[J]. Acta Neuropathol Commun, 2020, 8(1): 125. PMID: 32758284. PMCID: PMC7405369. DOI: 10.1186/s40478-020-01007-3.
	Sag E, Demir S, Bilginer Y, et al. Clinical features, muscle biopsy scores, myositis specific antibody profiles and outcome in juvenile dermatomyositis[J]. Semin Arthritis Rheum, 2021, 51(1): 95-100. PMID: 33360233. DOI: 10.1016/j.semarthrit.2020.10.007.
	Reed AM, Crowson CS, Hein M, et al. Biologic predictors of clinical improvement in rituximab-treated refractory myositis[J]. BMC Musculoskelet Disord, 2015, 16: 257. PMID: 26382217. PMCID: PMC4574570. DOI: 10.1186/s12891-015-0710-3.
	Kim Y, Song KS, Sohn EH, et al. Anti-TIF1γ antibody and the expression of TIF1γ in idiopathic inflammatory myopathies[J]. Int J Rheum Dis, 2019, 22(2): 314-320. PMID: 30398003. DOI: 10.1111/1756-185X.13424.
	Fiorentino DF, Kuo KR, Chung L, et al. Distinctive cutaneous and systemic features associated with antitranscriptional intermediary factor-1γ antibodies in adults with dermatomyositis[J]. J Am Acad Dermatol, 2015, 72(3): 449-455. PMID: 25595720. PMCID: PMC4351728. DOI: 10.1016/j.jaad.2014.12.009.
	Yamasaki Y, Kobayashi N, Akioka S, et al. Clinical impact of myositis-specific autoantibodies on long-term prognosis of juvenile idiopathic inflammatory myopathies: multicenter study[J]. Rheumatology (Oxford), 2021. PMID: 33576399. DOI: 10.1093/rheumatology/keab108. Epub ahead of print.
	Fujimoto M, Watanabe R, Ishitsuka Y, et al. Recent advances in dermatomyositis-specific autoantibodies[J]. Curr Opin Rheumatol, 2016, 28(6): 636-644. PMID: 27533321. DOI: 10.1097/BOR.0000000000000329.
	Pinal-Fernandez I, Ferrer-Fabregas B, Trallero-Araguas E, et al. Tumour TIF1 mutations and loss of heterozygosity related to cancer-associated myositis[J]. Rheumatology (Oxford), 2018, 57(2): 388-396. PMID: 29149307. PMCID: PMC5850766. DOI: 10.1093/rheumatology/kex413.
	Ikeda N, Yamaguchi Y, Kanaoka M, et al. Clinical significance of serum levels of anti-transcriptional intermediary factor 1-γ antibody in patients with dermatomyositis[J]. J Dermatol, 2020, 47(5): 490-496. PMID: 32103537. DOI: 10.1111/1346-8138.15284.
	Kurtzman DJB, Vleugels RA. Anti-melanoma differentiation-associated gene 5 (MDA5) dermatomyositis: a concise review with an emphasis on distinctive clinical features[J]. J Am Acad Dermatol, 2018, 78(4): 776-785. PMID: 29229575. DOI: 10.1016/j.jaad.2017.12.010.
	26 张瑾, 程江, 闵月, 等. 抗MDA5抗体阳性幼年皮肌炎合并严重闭塞性血管坏死1例并文献复习[J]. 医学综述, 2020, 26(15): 3117-3120. DOI: 10.3969/j.issn.1006-2084.2020.15.038.
	李冬梅, 汪利, 刘明月, 等. 幼年皮肌炎临床特征与肌炎抗体相关性分析[J]. 中华儿科杂志, 2020, 58(12): 966-972. PMID: 33256317. DOI: 10.3760/cma.j.cn112140-20200724-00751.
	Wolstencroft PW, Fiorentino DF. Dermatomyositis clinical and pathological phenotypes associated with myositis-specific autoantibodies[J]. Curr Rheumatol Rep, 2018, 20(5): 28. PMID: 29637414. DOI: 10.1007/s11926-018-0733-5.
	29 侯俊, 闫淯淳, 吴凤岐, 等. 幼年皮肌炎和多发性肌炎合并肺间质病变临床、影像学特点[J]. 中国医刊, 2021, 56(4): 428-431. DOI: 10.3969/j.issn.1008-1070.2021.04.021.
	Li LB, Wang Q, Wen XT, et al. Assessment of anti-MDA5 antibody as a diagnostic biomarker in patients with dermatomyositis-associated interstitial lung disease or rapidly progressive interstitial lung disease[J]. Oncotarget, 2017, 8(44): 76129-76140. PMID: 29100298. PMCID: PMC5652692. DOI: 10.18632/oncotarget.19050.
	Ryan ME, Cortez D, Dietz KR, et al. Anti-MDA5 juvenile idiopathic inflammatory myopathy with second-degree heart block but no skin or lung involvement: a case report[J]. BMC Rheumatol, 2021, 5(1): 8. PMID: 33795018. PMCID: PMC8017641. DOI: 10.1186/s41927-021-00180-9.
	Sabbagh S, Almeida de Jesus A, Hwang S, et al. Treatment of anti-MDA5 autoantibody-positive juvenile dermatomyositis using tofacitinib[J]. Brain, 2019, 142(11): e59. PMID: 31603187. PMCID: PMC6821280. DOI: 10.1093/brain/awz293.
	Suzuki S, Uruha A, Suzuki N, et al. Integrated diagnosis project for inflammatory myopathies: an association between autoantibodies and muscle pathology[J]. Autoimmun Rev, 2017, 16(7): 693-700. PMID: 28479486. DOI: 10.1016/j.autrev.2017.05.003.
	Aouizerate J, De Antonio M, Bader-Meunier B, et al. Muscle ischaemia associated with NXP2 autoantibodies: a severe subtype of juvenile dermatomyositis[J]. Rheumatology (Oxford), 2018, 57(5): 873-879. PMID: 29474663. DOI: 10.1093/rheumatology/kex516.
	35 Oddis CV, Fertig N, Goel A. Clinical and serological characterization of the anti-MJ antibody in childhood myositis[J]. Arthritis Rheumatol, 1997, 40: S139.
	36 许瑛杰, 周志轩, 侯俊, 等. 严重胃肠道受累的幼年皮肌炎4例病例系列报告[J]. 中国循证儿科杂志, 2019, 14(5): 355-358. DOI: 10.3969/j.issn.1673-5501.2019.05.007.
	Albayda J, Pinal-Fernandez I, Huang W, et al. Antinuclear matrix protein 2 autoantibodies and edema, muscle disease, and malignancy risk in dermatomyositis patients[J]. Arthritis Care Res (Hoboken), 2017, 69(11): 1771-1776. PMID: 28085235. PMCID: PMC5509530. DOI: 10.1002/acr.23188.
	Patwardhan A. The value of intravenous immunoglobulin therapy in idiopathic inflammatory myositis in the current transformed era of biologics[J]. Cureus, 2020, 12(2): e7049. PMID: 32128294. PMCID: PMC7034746. DOI: 10.7759/cureus.7049.
	Wu Q, Wedderburn LR, McCann LJ. Juvenile dermatomyositis: latest advances[J]. Best Pract Res Clin Rheumatol, 2017, 31(4): 535-557. PMID: 29773272. DOI: 10.1016/j.berh.2017.12.003.
	Lee S, Findeisen J, McLean C, et al. Recalcitrant ulcers associated with anti-small ubiquitin-like modifier activating enzyme-positive dermatomyositis treated with surgery followed by intravenous immunoglobulin[J]. Australas J Dermatol, 2018, 59(1): e76-e78. PMID: 28660625. DOI: 10.1111/ajd.12659.
	Ge YP, Lu X, Shu XM, et al. Clinical characteristics of anti-SAE antibodies in Chinese patients with dermatomyositis in comparison with different patient cohorts[J]. Sci Rep, 2017, 7(1): 188. PMID: 28298642. PMCID: PMC5428032. DOI: 10.1038/s41598-017-00240-6.
	Kishi T, Tani Y, Okiyama N, et al. Anti-SAE autoantibody-positive Japanese patient with juvenile dermatomyositis complicated with interstitial lung disease: a case report[J]. Pediatr Rheumatol Online J, 2021, 19(1): 34. PMID: 33740993. PMCID: PMC7980636. DOI: 10.1186/s12969-021-00532-2.
	Wolstencroft PW, Casciola-Rosen L, Fiorentino DF. Association between autoantibody phenotype and cutaneous adverse reactions to hydroxychloroquine in dermatomyositis[J]. JAMA Dermatol, 2018, 154(10): 1199-1203. PMID: 30140893. PMCID: PMC6233745. DOI: 10.1001/jamadermatol.2018.2549.