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当铜遇上自身免疫:威尔逊病与系统性红斑狼疮的罕见共存

When Copper Meets Autoimmunity: A Rare Coexistence of Wilson's Disease and Systemic Lupus Erythematosus.

作者信息

Bhagoowani Suresh, Devi Uooja, Munir Aqsa, Hasnain Ummulkiram, Khan Saad, Iqbal Javed, Akhtar Tehseen

机构信息

Department of Medicine II Dr. Ruth K. M. Pfau Civil Hospital Karachi Sindh Pakistan.

Dow University of Health Sciences Karachi Sindh Pakistan.

出版信息

Clin Case Rep. 2025 Feb 19;13(2):e70159. doi: 10.1002/ccr3.70159. eCollection 2025 Feb.

Abstract

The coexistence of systemic lupus erythematosus (SLE) and Wilson's disease (WD) is exceedingly rare, posing significant diagnostic challenges due to overlapping clinical presentations. Neurological and psychiatric manifestations commonly associated with WD can obscure or mimic symptoms of other systemic diseases, complicating accurate diagnosis and management. We report the case of a 17-year-old female diagnosed with WD and concurrent SLE, treated at Civil Hospital, Karachi, Pakistan. The patient initially presented with neuropsychiatric symptoms typical of WD, confirmed by diagnostic findings indicative of hepatic copper accumulation. She later developed significant proteinuria, hematuria, fever, and positive autoimmune serologies, raising suspicion of concurrent SLE. Despite therapeutic interventions, including methylprednisolone (1 mg), the patient's condition deteriorated, and she unfortunately succumbed to complications from a blood transfusion reaction. This case underscores the importance of heightened clinical vigilance when managing overlapping presentations of WD and systemic autoimmune disorders like SLE. Early recognition of WD-specific neurological and psychiatric symptoms is critical for timely diagnosis and intervention, potentially mitigating the risk of severe complications and poor outcomes.

摘要

系统性红斑狼疮(SLE)与威尔逊病(WD)并存极为罕见,由于临床表现重叠,给诊断带来了重大挑战。WD常见的神经和精神表现可能会掩盖或模仿其他全身性疾病的症状,使准确诊断和管理变得复杂。我们报告了一例17岁女性患者的病例,该患者在巴基斯坦卡拉奇市民医院被诊断为WD并并发SLE。患者最初出现典型的WD神经精神症状,诊断结果显示肝铜蓄积证实了这一点。她后来出现大量蛋白尿、血尿、发热以及自身免疫血清学检查呈阳性,这引发了对并发SLE的怀疑。尽管进行了包括甲基泼尼松龙(1毫克)在内的治疗干预,但患者病情恶化,不幸因输血反应并发症而死亡。该病例强调了在处理WD与SLE等全身性自身免疫性疾病重叠表现时提高临床警惕性的重要性。早期识别WD特异性神经和精神症状对于及时诊断和干预至关重要,有可能降低严重并发症和不良后果的风险。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd61/11839759/c0835a8ac85c/CCR3-13-e70159-g001.jpg

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