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目的探讨肝豆状核变性的临床表现与早期诊断,旨在提高临床医生对疾病的认识,减少误诊。方法回顾性分析34例肝豆状变性患者的临床表现、实验室及特殊检查情况。结果 34例患者中,发病年龄2～13岁,中位年龄8.2岁,首发症状肝病者14例,神经系统疾病的6例,溶血性贫血的9例,肾脏疾病的3例,其他表现的2例;临床分型肝型17例,脑型5例,其他型4例,混合型8例,均有血清铜蓝蛋白降低及24 h尿铜增高,K-F环阳性占54.8%,肝功能损害占79.4%。结论肝豆状核变性多见于儿童,对不明原因的肝脏及神经精神疾病、反复溶血性贫血、肾小管疾病以及存在肝豆状核变性家族史的患者,均应高度怀疑该病的可能,应进行相关检查尽早明确诊断及治疗。
Objective To investigate the clinical manifestations and early diagnosis of hepatolenticular degeneration, aimed at improving clinicians’ awareness of the disease and reducing misdiagnosis. Methods Retrospective analysis of 34 cases of liver degeneration patients with clinical manifestations, laboratory and special inspection. Results Among the 34 patients, the age of onset was from 2 to 13 years, with a median age of 8.2 years. There were 14 patients with first-onset liver disease, 6 with neurological disease, 9 with hemolytic anemia, 3 with renal disease, and 2 with other manifestations Cases of clinical type liver cirrhosis in 17 cases, 5 cases of brain type, the other 4 cases, 8 cases of mixed type, both serum ceruloplasmin and 24 h urinary copper increased, KF ring positive accounted for 54.8%, liver damage 79.4%. Conclusions Hepatolenticular degeneration is more common in children. Patients with unexplained liver and neuropsychiatric disorders, recurrent hemolytic anemia, tubular disease, and family history of Wilson’s disease should be highly suspected of the disease and should be The relevant examination as soon as possible to confirm the diagnosis and treatment.