肝豆状核变性早期临床特点及误诊分析

The clinical features and misdiagnosis of wilson disease

目的探讨肝豆状核变性(wilson disease,WD)早期临床特点及误诊情况。方法对200例确诊WD患者的首发症状、临床表现、误诊情况及主要辅助检查资料进行分析。结果本组患者发病年龄2~46岁,平均(17±8.6)岁,主要见于青少年;以神经系统损害起病者平均发病年龄(21.5±8.2)岁,以肝脏损害起病者平均发病年龄(13.7±8.6)岁;最常见的临床症状为震颤(42.5%);脑型患者最多122例(61%);来诊时病程2d^24年,平均24个月;误诊为肝炎30例(15%);有阳性家族史45例,均为同胞一代发病。结论临床上发现以下特点病人时应对其进行WD的筛查:①不明原因且治疗效果不好的肝脏疾病,特别是儿童患者;②不明原因的运动障碍患者,尤其是年龄<40岁的锥体外系症状患者;③青少年期出现不明原因的性格改变、精神症状或智力下降者;④不明原因的溶血性贫血或溶血性贫血反复发作,而抗人球蛋白试验阴性者;⑤不明原因的肾小管性酸中毒及反复或持续性血尿、水肿等肾脏疾病者;⑥不明原因的关节痛,经抗风湿治疗无效者;⑦青少年出现不明原因的皮肤变黑;⑧有WD家族史的青少年,尤其是同胞一代有发病的青少年。

Objective To discuss the early clinical features and misdiagnosis of WD. Methods The first symptoms, clinical manifestation , misdiagnosis and main assisted check results of 200 patients who were confirmly suffered with WD were analyzed. Results The outbreak age was between 2-46 years old, average （17±8.6）years old, main see at the teenager. The average outbreak age was （21.5±8.2）years old of patients with nervous system manifestation. The average outbreak age was （13.7±8.6）years old of patients with liver injure. The main clinical manifestation was tremor（42. 5%） ; brain type patients were 122 cases （61%） ,the diagnose course was 2 days to 24 years. The most common misdiagnosis was hepatitis（15 %）,45 patients had hereditary history,and were compatriot generation outbreak. Conclusion Patients with the following features should be checked for WD： ①Liver disease with nonreason and ineffective treatment, especially child sufferers; ②Patients with Parkinsonian manifestation and under 40-year-old;③ The teenager appear with personality change, the spirit symptom, or intelligence descend;④Patients with anemia but anti- person＇s globulin experiment feminine gender;⑤ Kidney disease with nonreason; ⑥The joint pain and anti- rheumatism treatment invalid; ⑦ Teenager appear with the skin becoming black; ⑧The teenager with WD hereditary history, particularly the compatriot generation has outbreak.