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肝豆状核变性的临床分析 |
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刘玉兰 冯卫华
摘 要：分析16例肝豆状核变性患者的临床表现。结果表明发病年龄为15.8±8.3岁，首发症状以神经系统(56.25%)和消化系统(25%)为主；在疾病过程中有80%以上患者仍表现为上述两系统症状，其中以肢体震颤和肝损害为多见。几乎100%的患者出现血清铜和铜蓝蛋白含量减低、24小时尿铜含量升高及眼K-F环阳性；62.5%的患者经D-青霉胺等治疗有效。结论：肝豆状核变性主要发生于青少年，以神经和消化系统为主要表现；血清铜、铜蓝蛋白、尿铜及眼K-F环是其特征性改变。
关键词：肝豆状核变性 Wilson′s病 临床表现
The clinical analysis of hepatolenticular degeneration
Liu Yulan
(Gastronterology Department of Peoples Hospital,
Beijing Medical University,Beijing 100044)
Feng Weihua
(Gastronterology Department of Peoples Hospital,
Beijing Medical University,Beijing 100044)
Abstract：The clinical manifestations of 16 patients with hepatolenticular degeneration (HLD) were analyzed.The results showed that their age incidence was 15.8±8.3 years old,the primary symptoms of the patients were predominantly nervous and digestive manifestations.More than 80% of patients still had the nervous and digestive symptoms in the course of disease,eg,tremor of limbs and liver damage.Low contents of serum copper and ceruloplasmin with high contents of 24-hour urine copper and positive Kayser-Fleischer ring in eyes were present.In addition,D-penicillamine drugs were effective for 62.5% of patients.Conclusion:HLD is mainly a disease of adolescence,and nervous and digestive symptoms were the main manifestations.The characteristic changes are low serum copper and ceruloplasmin,and high 24-hour urine copper content and eyes Kayser-Fleischer ring.
Key words：Hepatolenticular degeneration Wilson s disease Clinical manifestations▲
肝豆状核变性(HLD)又名Wilson病，是一种以青少年为主的少见遗传性疾病，临床上以肝硬化、大脑基底节软化、变性和角膜色素环为特征，铜代谢障碍为其根本原因。近8年我院共收治16例患者，我们就其临床表现等进行分析讨论，加强对该病的认识，以期早期诊断治疗。
临床资料与结果
一、性别与年龄
16例患者中男9例，女7例；年龄最大的32岁，最小的5.5岁，平均15.8±8.4岁。
二、临床表现
1.首发症状：其中9例表现为双上肢震颤、言语不清及步态不稳等神经系统症状，占56.3%；4例表现为巩膜黄染及乏力、腹胀等消化系统症状，占25.0%；2例表现为面、眼睑及双下肢浮肿，其中1例伴有皮肤紫癜，占12.5%；1例以皮肤发黑和月经减少等内分泌表[1] [2] 下一页
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