Wilson病并发自身免疫性甲状腺病5例临床分析

Clinical characteristics of 5 patients with Wilson’s disease complicated with autoimmune thyroid disease

目的总结分析Wilson病并发自身免疫性甲状腺疾病的临床特征,探究其可能的发病机制。方法回顾性分析5例Wilson病合并自身免疫性甲状腺疾病病例,采集一般人口学信息,分析总结其临床表现,实验室检查及影像学特征,并检索学习相关文献,分析其可能发病机制。结果5例患者病变涉及肝脏,CNS及甲状腺等多个器官,组织,临床表现以神经、精神症状为主。实验室检查示铜蓝蛋白减低,24 h尿铜显著增高,甲状腺球蛋白抗体和(或)甲状腺过氧化物酶抗体升高。甲状腺超声显示弥漫性改变。头颅MRI表现为双侧豆状核、丘脑等部位异常信号。经过驱铜、抗甲状腺或补充甲状腺素等治疗,随访期患者症状表现得到不同程度改善,但甲状腺激素水平及相关抗体仍异常。结论Wilson病可引起自身免疫功能紊乱。Wilson病可并发自身免疫性甲状腺疾病,二者合病临床表现复杂。铜代谢障碍可能参与二者合病。

Objective To summarize and analyze the clinical characteristics of Wilson’s disease complicated with autoimmune thyroid disease,and explore its possible pathogenesis.Methods Five cases of Wilson’s disease complicated with autoimmune thyroid disease were retrospectively analyzed.General demographic information was collected,and the manifestations,laboratory examination,and imaging features were analyzed and summarized.Relevant literature was searched and studied to investigate the possible pathogenesis.Results The lesions involved the liver,CNS,thyroid,and other organs,tissues in 5 cases,and the features were mainly neurological and psychiatric symptoms.Laboratory tests showed a decrease of ceruloplasmin,a significant increase in 24 h urinary copper,and an increase of thyroglobulin antibody and/or thyroid peroxidase antibody.Thyroid ultrasound showed diffuse changes.Brain MRI showed abnormal signals in the bilateral lenticular nucleus and thalamus.After treatment such as copper complexing agent,anti-thyroid or thyroxine supplementation,the symptoms were improved to varying degrees,but thyroid hormone and antibodies were still abnormal during the follow-up.Conclusions Wilson’s disease can cause autoimmune dysfunction.Wilson’s disease could be complicated by autoimmune thyroid disease,and the manifestations of the two diseases are complex.Copper metabolism disorder may be involved in the combination of the two diseases.