PDF(Pubmed)
Abstract：
BACKGROUND: Systemic lupus erythematosus (SLE) and Wilson\'s disease (WD) are both systemic diseases that can affect multiple organs in the body. The coexistence of SLE and WD is rarely encountered in clinical practice, making it challenging to diagnose.
METHODS: We present the case of a 9-year-old girl who initially presented with proteinuria, haematuria, pancytopenia, hypocomplementemia, and positivity for multiple autoantibodies. She was diagnosed with SLE, and her blood biochemistry showed elevated liver enzymes at the time of diagnosis. Despite effective control of her symptoms, her liver enzymes remained elevated during regular follow-up. Laboratory tests revealed decreased serum copper and ceruloplasmin levels, along with elevated urinary copper. Liver biopsy revealed chronic active hepatitis, moderate inflammation, moderate-severe fibrosis, and a trend towards local cirrhosis. Genetic sequencing revealed compound heterozygous mutations in the ATP7B gene, confirming the diagnosis of SLE with WD. The girl received treatment with a high-zinc/low-copper diet, but her liver function did not improve. Upon recommendation following multidisciplinary consultation, she underwent liver transplantation. Unfortunately, she passed away on the fourth day after the surgery.
CONCLUSIONS: SLE and WD are diseases that involve multiple systems and organs in the body, and SLE complicated with WD is rarely encountered in the clinic; therefore, it is easy to misdiagnose. Because penicillamine can induce lupus, it is not recommended. Liver transplantation is indicated for patients with liver disease who do not respond to medical treatment with WD. However, further research is needed to determine the optimal timing of liver transplantation for patients with SLE complicated with WD.
METHODS: We present the case of a 9-year-old girl who initially presented with proteinuria, haematuria, pancytopenia, hypocomplementemia, and positivity for multiple autoantibodies. She was diagnosed with SLE, and her blood biochemistry showed elevated liver enzymes at the time of diagnosis. Despite effective control of her symptoms, her liver enzymes remained elevated during regular follow-up. Laboratory tests revealed decreased serum copper and ceruloplasmin levels, along with elevated urinary copper. Liver biopsy revealed chronic active hepatitis, moderate inflammation, moderate-severe fibrosis, and a trend towards local cirrhosis. Genetic sequencing revealed compound heterozygous mutations in the ATP7B gene, confirming the diagnosis of SLE with WD. The girl received treatment with a high-zinc/low-copper diet, but her liver function did not improve. Upon recommendation following multidisciplinary consultation, she underwent liver transplantation. Unfortunately, she passed away on the fourth day after the surgery.
CONCLUSIONS: SLE and WD are diseases that involve multiple systems and organs in the body, and SLE complicated with WD is rarely encountered in the clinic; therefore, it is easy to misdiagnose. Because penicillamine can induce lupus, it is not recommended. Liver transplantation is indicated for patients with liver disease who do not respond to medical treatment with WD. However, further research is needed to determine the optimal timing of liver transplantation for patients with SLE complicated with WD.
摘要：
背景：系统性红斑狼疮（SLE）和威尔逊氏病（WD）都是可以影响体内多个器官的全身性疾病。SLE和WD的共存在临床实践中很少遇到，这使得诊断具有挑战性。
方法：我们介绍了一个9岁女孩最初出现蛋白尿的案例，血尿,全血细胞减少症,低补体血症,和多种自身抗体阳性。她被诊断出患有SLE,在诊断时她的血液生化显示肝酶升高.尽管她的症状得到了有效控制，在定期随访期间,她的肝酶仍然升高.实验室检测显示血清铜和铜蓝蛋白水平下降，以及尿铜升高。肝活检显示慢性活动性肝炎，中度炎症,中度-重度纤维化，和局部肝硬化的趋势。基因测序显示ATP7B基因的复合杂合突变，用WD确认SLE的诊断。女孩接受高锌/低铜饮食治疗，但是她的肝功能没有改善.根据多学科协商后的建议，她接受了肝移植。不幸的是,她在手术后第四天去世。
结论：SLE和WD是涉及身体多个系统和器官的疾病，在临床上很少遇到SLE并发WD；因此，很容易误诊。因为青霉胺可以诱发狼疮,不推荐。肝移植适用于对WD药物治疗无反应的肝病患者。然而,需要进一步的研究来确定SLE合并WD患者肝移植的最佳时机.
方法：我们介绍了一个9岁女孩最初出现蛋白尿的案例，血尿,全血细胞减少症,低补体血症,和多种自身抗体阳性。她被诊断出患有SLE,在诊断时她的血液生化显示肝酶升高.尽管她的症状得到了有效控制，在定期随访期间,她的肝酶仍然升高.实验室检测显示血清铜和铜蓝蛋白水平下降，以及尿铜升高。肝活检显示慢性活动性肝炎，中度炎症,中度-重度纤维化，和局部肝硬化的趋势。基因测序显示ATP7B基因的复合杂合突变，用WD确认SLE的诊断。女孩接受高锌/低铜饮食治疗，但是她的肝功能没有改善.根据多学科协商后的建议，她接受了肝移植。不幸的是,她在手术后第四天去世。
结论：SLE和WD是涉及身体多个系统和器官的疾病，在临床上很少遇到SLE并发WD；因此，很容易误诊。因为青霉胺可以诱发狼疮,不推荐。肝移植适用于对WD药物治疗无反应的肝病患者。然而,需要进一步的研究来确定SLE合并WD患者肝移植的最佳时机.
