唐氏综合症成人患者的类风湿性关节炎和痛风性关节炎

Shaima N. Elgenaid, Z. I. Mahmoud, M. Essa, Shahd H. A. Elwidaa, Latifa M. Elsheikh, A. Abdelhalim, M. Hussein, Mutwaly Defealla Yousif Haron, Ayman Ahmed
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引用次数: 0

摘要

唐氏综合症是由21号染色体三体引起的一种染色体疾病。它表现为不同的表型,包括自身免疫性疾病和关节炎。本病例报告的目的是描述和文件类风湿性关节炎和痛风性关节炎患者唐氏综合征。我们在此报告一例44岁女性唐氏综合症患者,10个月前被诊断为癫痫。患者表现为一年的膝盖、双侧大脚趾和咽总管关节肿胀史。此外,在检查时,她有双手尺侧偏,活动范围有限,关节严重压痛,脱发和脊柱侧凸。血清尿酸、ESR、CRP水平升高,类风湿因子呈强阳性;但ANA谱和抗CCP抗体均为阴性。因此,她被诊断为类风湿关节炎和痛风性关节炎。目前她正在服用羟氯喹、别嘌呤、巴氯芬、甲氨蝶呤、叶酸和丙戊酸钠。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Rheumatoid arthritis and gouty arthritis in an adult patient with Down's syndrome
Down’s syndrome is a chromosomal disorder caused by trisomy of chromosome 21. It presents with different phenotypes including autoimmune diseases and arthritis. The aim of this case report is to describe and document rheumatoid arthritis and gouty arthritis in patient with Down's syndrome. Here we are reporting a case of 44 year-old female with Down's syndrome who was diagnosed with epilepsy 10 months ago. She presented with a one-year history of swelling of knees, bilateral big toes and the metacrpopharyngal joints. In addition, on examination she had ulnar deviation of her hands, limited range of motion and severe tenderness of the noted joints, hair loss and scoliosis. Her serum uric acid, ESR and CRP levels were elevated and rheumatoid factor was strongly positive; however, ANA profile and anti CCP antibodies were negative. Therefore, she was diagnosed with rheumatoid arthritis and gouty arthritis. Currently she is on hydroxychoroquine, allopurinl, baclofen, methotrexate, folic acid and sodium valproate.
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