Jones Jordan T
Department of Pediatrics, Children's Mercy Kansas City, Kansas, MO, USA.
University of Missouri-Kansas City School of Medicine, Kansas, MO, USA.
Case Rep Rheumatol. 2022 Jul 16;2022:4889102. doi: 10.1155/2022/4889102. eCollection 2022.
Down syndrome (DS) results from a trisomy of chromosome 21, which causes immune dysregulation that leads to hyperactivation of interferon and Janus kinase (JAK) signaling. This results in complex medical abnormalities in the immune system and an increase in autoimmune and autoinflammatory conditions such as down syndrome-associated arthritis (DA). DA is an aggressive, destructive, inflammatory arthritis that is easily misdiagnosed and difficult to treat. Treatment commonly includes immunosuppressive therapy, but these are often associated with adverse effects and ineffectiveness. This case report outlines a 6-year-old male with DA that was successfully treated with the JAK inhibitor tofacitinib. Due to the aggressive nature of DA and poor response to many immunosuppressive therapies, this case report was created to increase awareness of JAK inhibition as an effective, well-tolerated treatment for DA.
唐氏综合征（DS）由21号染色体三体性引起，这会导致免疫失调，进而导致干扰素和Janus激酶（JAK）信号过度激活。这会导致免疫系统出现复杂的医学异常，并增加自身免疫和自身炎症性疾病的发生，如下唐氏综合征相关关节炎（DA）。DA是一种侵袭性、破坏性的炎症性关节炎，很容易被误诊且难以治疗。治疗通常包括免疫抑制疗法，但这些疗法往往伴有不良反应且效果不佳。本病例报告概述了一名患有DA的6岁男性，他通过JAK抑制剂托法替布成功治愈。由于DA的侵袭性以及对许多免疫抑制疗法反应不佳，撰写本病例报告旨在提高人们对JAK抑制作为一种有效且耐受性良好的DA治疗方法的认识。
