专家论坛

抗MDA5抗体阳性皮肌炎患者的临床特征、诊断与预后

展开
  • 上海交通大学医学院附属瑞金医院皮肤科,上海 200025

收稿日期: 2021-01-05

  网络出版日期: 2021-02-25

基金资助

国家自然科学基金面上项目(81573037);国家自然科学基金面上项目(81872523);国家自然科学基金面上项目(82073432);国家临床重点专科建设项目(2012649);上海市科委医学引导类项目(134119a6100);上海申康医院发展中心临床创新三年行动计划(16CR3084B);上海交通大学医学院高峰学科——临床医学研究型医师(20172009);上海市医苑新星杰出青年医学人才(2019)

本文引用格式

曹华, 郑捷 . 抗MDA5抗体阳性皮肌炎患者的临床特征、诊断与预后[J]. 诊断学理论与实践, 2021 , 20(01) : 8 -14 . DOI: 10.16150/j.1671-2870.2021.01.002

参考文献

[1] Hirakata M, Nagai S. Interstitial lung disease in polymyositis and dermatomyositis[J]. Curr Opin Rheumatol, 2000, 12(6):501-508.
[2] Cao H, Parikh TN, Zheng J. Amyopathic dermatomyositis or dermatomyositis-like skin disease: retrospective review of 16 cases with amyopathic dermatomyositis[J]. Clin Rheumatol, 2009, 28(8):979-984.
[3] Hamaguchi Y, Fujimoto M, Matsushita T, et al. Common and distinct clinical features in adult patients with anti-aminoacyl-tRNA synthetase antibodies: heterogeneity within the syndrome[J]. PLoS One, 2013, 8(4):e60442.
[4] Sato S, Hirakata M, Kuwana M, et al. Autoantibodies to a 140-kd polypeptide, CADM-140, in Japanese patients with clinically amyopathic dermatomyositis[J]. Arthritis Rheum, 2005, 52(5):1571-1576.
[5] Sato S, Hoshino K, Satoh T, et al. RNA helicase encoded by melanoma differentiation-associated gene 5 is a major autoantigen in patients with clinically amyopathic dermatomyositis: association with rapidly progressive interstitial lung disease[J]. Arthritis Rheum, 2009, 60(7):2193-2200.
[6] Nakashima R, Imura Y, Kobayashi S, et al. The RIG-I-like receptor IFIH1/MDA5 is a dermatomyositis-specific autoantigen identified by the anti-CADM-140 antibody[J]. Rheumatology (Oxford), 2010, 49(3):433-440.
[7] Cao H, Pan M, Kang Y, et al. Clinical manifestations of dermatomyositis and clinically amyopathic dermatomyositis patients with positive expression of anti-melanoma differentiation-associated gene 5 antibody[J]. Arthritis Care Res (Hoboken), 2012, 64(10):1602-1610.
[8] Wu Q, Wedderburn LR, McCann LJ. Juvenile dermatomyositis: latest advances[J]. Best Pract Res Clin Rheumatol, 2017, 31(4):535-557.
[9] Tansley SL, Betteridge ZE, Gunawardena H, et al. Anti-MDA5 autoantibodies in juvenile dermatomyositis identify a distinct clinical phenotype: a prospective cohort study[J]. Arthritis Res Ther, 2014, 16(4):R138.
[10] Kobayashi I, Okura Y, Yamada M, et al. Anti-melanoma differentiation-associated gene 5 antibody is a diagnostic and predictive marker for interstitial lung diseases associated with juvenile dermatomyositis[J]. J Pediatr, 2011, 158(4):675-677.
[11] DeWane ME, Waldman R, Lu J. Dermatomyositis: clinical features and pathogenesis[J]. J Am Acad Dermatol, 2020, 82(2):267-281.
[12] Moghadam-Kia S, Oddis CV, Sato S, et al. Antimelanoma Differentiation-associated gene 5 antibody: expanding the clinical spectrum in North American patients with dermatomyositis[J]. J Rheumatol, 2017, 44(3):319-325.
[13] Chen Z, Cao M, Plana MN, et al. Utility of anti-melanoma differentiation-associated gene 5 antibody measurement in identifying patients with dermatomyositis and a high risk for developing rapidly progressive interstitial lung disease: a review of the literature and a meta-analysis[J]. Arthritis Care Res(Hoboken), 2013, 65(8):1316-1324.
[14] Takeuchi O, Akira S. MDA5/RIG-I and virus recognition[J]. Curr Opin Immunol, 2008, 20(1):17-22.
[15] Yoneyama M, Kikuchi M, Matsumoto K, et al. Shared and unique functions of the DExD/H-box helicases RIG-I, MDA5, and LGP 2 in antiviral innate immunity[J]. J Immunol, 2005, 175(5):2851-2858.
[16] Nishina N, Sato S, Masui K, et al. Seasonal and residential clustering at disease onset of anti-MDA5-associated interstitial lung disease[J]. RMD Open, 2020, 6(2):e001202.
[17] Fiorentino D, Chung L, Zwerner J, et al. The mucocutaneous and systemic phenotype of dermatomyositis patients with antibodies to MDA5(CADM-140): a retrospective study[J]. J Am Acad Dermatol, 2011, 65(1):25-34.
[18] Narang NS, Casciola-Rosen L, Li S, et al. Cutaneous ulceration in dermatomyositis: association with anti-melanoma differentiation-associated gene 5 antibodies and interstitial lung disease[J]. Arthritis Care Res (Hoboken), 2015, 67(5):667-672.
[19] Cao H, Xia Q, Pan M, et al. Gottron papules and Gottron sign with ulceration: a distinctive cutaneous feature in a subset of patients with classic dermatomyositis and clinically amyopathic dermatomyositis[J]. J Rheumatol, 2016, 43(9):1735-1742.
[20] Ono N, Kai K, Maruyama A, et al. The relationship between type 1 IFN and vasculopathy in anti-MDA5 antibody-positive dermatomyositis patients[J]. Rheumatology (Oxford), 2019, 58(5):786-791.
[21] Disdier P, Harlé JR, Chrestian MA, et al. Extensive pharyngeal necrosis: an unusual complication of dermatomyositis[J]. Rev Med Interne, 1992, 13(3):218-220.
[22] 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.
[23] Allenbach Y, Leroux G, Suárez-Calvet X, et al. Dermatomyositis with or without anti-melanoma differentiation-associated gene 5 antibodies: common interferon signature but distinct NOS2 expression[J]. Am J Pathol, 2016, 186(3):691-700.
[24] Vuillard C, Pineton de Chambrun M, de Prost N, et al. Clinical features and outcome of patients with acute respiratory failure revealing anti-synthetase or anti-MDA-5 dermato-pulmonary syndrome: a French multicenter retrospective study[J]. Ann Intensive Care, 2018, 8(1):87.
[25] Gono T, Sato S, Kawaguchi Y, et al. Anti-MDA5 antibody, ferritin and IL-18 are useful for the evaluation of response to treatment in interstitial lung disease with anti-MDA5 antibody-positive dermatomyositis[J]. Rheumatology (Oxford), 2012, 51(9):1563-1570.
[26] Diao LC, Chen M, Lu YD, et al. Detection of serum ferritin in patients with idiopathic inflammatory myopathies and its clinical significance[J]. Clin J Dermatol, 2016, 49(6):391-395.
[27] Gono T, Kawaguchi Y, Hara M, et al. Increased ferritin predicts development and severity of acute interstitial lung disease as a complication of dermatomyositis[J]. Rheumatology(Oxford), 2010, 49(7):1354-1360.
[28] Chen M, Quan C, Diao L, et al. Measurement of cytokines and chemokines and association with clinical severity of dermatomyositis and clinically amyopathic dermatomyositis[J]. Br J Dermatol, 2018, 179(6):1334-1341.
[29] 蔡怡华, 郑捷. 血清肌酶在评价皮肌炎与多肌炎合并肺间质病变中的作用[J]. 诊断学理论与实践, 2004, 3(4):260-263.
[30] Vojinovic T, Cavazzana I, Ceruti P, et al. Predictive features and clinical presentation of interstitial lung disease in inflammatory myositis[J]. Clin Rev Allergy Immunol, 2021, 60(1):87-94.
[31] Allenbach Y, Uzunhan Y, Toquet S, et al. Different phenotypes in dermatomyositis associated with anti-MDA5 antibody: study of 121 cases[J]. Neurology, 2020, 95(1):e70-e78.
[32] Yamaguchi K, Yamaguchi A, Onuki Y, et al. Clinical features of dermatomyositis associated with anti-MDA5 antibodies by age[J]. Mod Rheumatol, 2021, 31(1):177-185.
[33] Romero-Bueno F, Diaz Del Campo P, et al. Recommendations for the treatment of anti-melanoma differentiation-associated gene 5-positive dermatomyositis-associated rapidly progressive interstitial lung disease[J]. Semin Arthritis Rheum, 2020, 50(4):776-790.
[34] Li LB, Liu CX, Zhang YF. Comparison analysis of anti-MDA5 antibody and anti-TIF1 antibody between ELISA and line blot assay[J]. Int J Lab Med, 2019, 40(9):1028-1031.
文章导航

/