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威尔逊病合并系统性红斑狼疮:一例报告及文献综述

Wilson's disease combined with systemic lupus erythematosus: a case report and literature review.

作者信息

Zhang Yun, Wang Dongmei, Wei Wei, Zeng Xuejun

机构信息

PublicationChinese Academy of Medical Science (CAMS) and Peking Union Medical College (PUMC), Beijing, 100730, China.

Department of Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China.

出版信息

BMC Neurol. 2018 Jun 15;18(1):85. doi: 10.1186/s12883-018-1085-5.

Abstract

BACKGROUND

Wilson's disease (WD) is an inherited disorder in which defective biliary excretion of copper leads to its accumulation, particularly in the liver and brain. Systemic lupus erythematosus (SLE) is a multi-system disorder that can manifest in any system. Cases with concomitant WD and SLE, unrelated to treatment with penicillamine, have been rarely reported.

CASE PRESENTATION

We report a case of a young woman who had typical neuropsychiatric symptoms and laboratory tests results of WD. She also had concomitant massive hematuria and proteinuria, fever, multiple positive autoimmune antibodies, hypocomplementemia, abnormal lumbar puncture findings and evidence of Sjögren syndrome, which are all rare in WD. Hence, we considered the diagnosis of SLE. Tapering of steroid dosage also confirmed the diagnosis.

CONCLUSION

Wilson's disease and SLE have varied clinical manifestations. Herein, we reported a rare case in which the two conditions concomitantly existed. In clinical practice, differential diagnosis of the two diseases is necessary for patients with hepatic, neurological, and psychiatric manifestations.

摘要

背景

威尔逊病(WD)是一种遗传性疾病,其中铜的胆汁排泄缺陷导致其蓄积,尤其是在肝脏和大脑中。系统性红斑狼疮(SLE)是一种多系统疾病,可在任何系统中表现出来。与青霉胺治疗无关的WD和SLE并存的病例鲜有报道。

病例报告

我们报告一例年轻女性病例,她有典型的神经精神症状和WD的实验室检查结果。她还伴有大量血尿和蛋白尿、发热、多种自身免疫抗体阳性、补体血症、腰椎穿刺结果异常以及干燥综合征的证据,这些在WD中均很少见。因此,我们考虑诊断为SLE。逐渐减少类固醇剂量也证实了诊断。

结论

威尔逊病和SLE有多种临床表现。在此,我们报告了一例这两种疾病并存的罕见病例。在临床实践中,对于有肝脏、神经和精神表现的患者,有必要对这两种疾病进行鉴别诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6387/6002982/1b505059afa8/12883_2018_1085_Fig1_HTML.jpg

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