肝豆状核变性临床特点分析

Clinical Features of Hepatolenticular Degeneration

目的分析肝豆状核变性患者的临床特点,提高临床医生对该病的认识,减少误诊。方法回顾性分析我院2005年2月—2010年4月收治的44例首诊为肝豆状核变性患者的临床资料,内容包括病程、首发症状、伴随症状、实验室检查及影像学检查结果等。结果肝豆状核变性患者发病平均年龄为(15.4±12.4)岁,平均病程为18.4个月;肝病型占70%(31/44),神经型占18%(8/44),其他型占11%(5/44);角膜色素环(K-F)检查阳性率为91%(20/22),血清铜蓝蛋白异常率为93%(40/43),尿铜异常率为85%(23/27),肝功能指标及凝血指标均存在不同程度的异常,腹部超声及颅脑MRI可提示肝功能损伤及脑损伤;本病误诊率为66%(29/44)。结论对可疑肝豆状核变性的患者应及时行K-F环、血清铜蓝蛋白、腹部超声及颅脑MRI等检查,以达到早期诊治的目的,减少误诊,改善患者预后。

Objective To analyze the clinical features of hepatolenticular degeneration （HLD） to improve clinical physicians＇awareness of the disease and reduce its misdiagnoses. Methods A retrospective analysis was performed on the clini- cal data （ including courses of disease, first symptom, concomitant symptom, laboratory tests and imaging studies ） of 44 pa- tients with HLD as first symptom admitted from February 2005 to April 2010. Results The mean age of first attack was （ 15.4 ± 12.4） years old, average course of disease 18.4 months. Liverish type accounted for 70% （31/44） , nervous for 18% （8/ 44） , the others for 11% （5/44）. Positive rate of corneal K -F ring was 91% （20/22） , abnormal rates of ceruloplasmin and urinary copper 93 % （40/43） , 85 % （23/27） , respectively. The indicators of liver function and coagulation were abnormal at varying degrees. Abdominal ultrasound and cranial MRI suggested damages of liver function and brain. The misdiagnosis rate was 66% （29/44）. Conclusion Patients suspicious of HLD should undergo timely K - F ring, serum ceruloplasmin, abdominal ultrasound, cranial MRI and other tests, to achieve the purpose of early diagnosis and treatment to reduce its misdiagnosis and improve patients＇prognoses.