血小板降低，呼吸困难伴间断咳嗽，是系统性红斑狼疮还是肝豆状核变性？  

Thrombocytopenia, dyspnea and cough, systemic lupus erythematosus or hepatolenticular degeneration？

作　　者：钟舒文[1] 徐亚珍[1] 邓朝晖[1] 蒋丽蓉[1] 王剑[2] 

机构地区：[1]上海交通大学医学院附属上海儿童医学中心消化内科,200127 [2]上海交通大学医学院分子诊断实验室,200127

出　　处：《中华实用儿科临床杂志》2017年第20期1580-1583,共4页Chinese Journal of Applied Clinical Pediatrics

摘　　要：患儿，女，13岁，3年前以血小板减少起病，1个月前发现抗核抗体（ANA）滴度阳性，抗双链DNA（dsDNA）抗体弱阳性，C3降低，此次因＂呼吸困难伴间断咳嗽3 d＂拟诊＂系统性红斑狼疮（SLE）＂收入病房。入院后发现肝、肾、脾等多脏器受累，SLE无法解释患儿存在肝硬化，且SLE特异性抗体指标抗dsDNA仅弱阳性，补体C3下降程度和疾病的活动度无关。头颅磁共振成像示双侧基底核区散在异常信号无法用SLE解释，故SLE诊断可疑。进一步查铜蓝蛋白降低，24 h尿铜升高，纠正诊断为肝豆状核变性（HLD）和肺部感染。且基因测序结果显示患儿ATP7B基因存在复合杂合变异，一处剪切位点突变c.1708-5T〉G，另一处错义突变c.2333G〉T，p.Arg778Leu，确诊HLD。对于多系统受累，不明原因的肝脏病变患者应警惕HLD。基因测序为早期诊断HLD提供帮助。A 13-year-old girl initially complained of thrombocytopenia 3 years ago and had positive antinuclear antibody（ANA）, weakly positive anti-double-stranded （anti-ds）DNA antibodies and decrease of C3 1 month ago.She was admitted to the ward following dyspnea and intermittent cough for three days this time.The initial diagnosis was systemic lupus erythematosus （SLE）. The clinical manifestation after admission involved multiple organs such as liver, kidney and spleen.However, cirrhosis could not be explained by SLE.Besides, anti-dsDNA as a specific index for SLE was only weakly positive in this case and the decrease of C3 was independent to activity of the disease.Abnormal signals in bilateral basal ganglia confirmed by MRI could not be explained by SLE, either.Therefore, the initial diagnosis as SLE was suspicious.Further laboratory test showed low ceruloplasmin and increased 24 urine Cu to correct the diagnosis as hepatolenticular degeneration （HLD） and pulmonary infection.Gene sequence analysis revealed heterozygous mutation in ATP7B gene （a splice site mutation： c.1708-5T〉G; a missense mutation： c.2333G〉T, p.Arg778Leu）. HLD should be suspected in any patient with liver abnormalities of uncertain causes along with involvement of multiple systems.Gene sequence analysis is helpful to early diagnosis of HLD.

关 键 词：系统性红斑狼疮 肝豆状核变性 肝硬化 

分 类 号：R742.4[医药卫生—神经病学与精神病学]