论文部分内容阅读
目的分析总结Wilson’s病(Wilson’s disease,WD)患者临床特点,减少误诊,改善患者预后。方法回顾性分析2008年1月至2014年12月我院收治的126例WD患者临床资料(主要包括临床表现、头部及腹部影像学检查),并进行分析总结。结果 126例WD患者中,男女比为75∶51,发病中位年龄21岁。10.3%(13/126)患者有WD家族史,87.3%(109/126)患者表现为神经精神系统症状,14.3%(18/126)患者以肝病为首发表现。126例WD患者血清铜蓝蛋白水平均低于200mg/L,其中铜蓝蛋白水平低于100mg/L 121例(96.0%);在接受头部MRI检查患者中,92.7%(102/110)有异常;在接受腹部影像学检查患者中,88.9%(97/109)有异常;98.3%(115/117)患者裂隙灯角膜K-F环检查阳性;1例患者肝脏组织穿刺罗丹宁染色阳性。从发病到确诊的时间3d~19年,中位时间8个月,有20例(15.9%)患者曾经被误诊为其他系统疾病。结论 WD临床表现多样,在出现神经系统症状患者伴或不伴肝脏损害时,或临床不明原因的肝功能损害患者,均应考虑到此病的可能性,应进一步检测铜代谢相关指标、角膜K-F环,甚至肝脏组织穿刺活检以鉴别。
Objective To summarize the clinical features of patients with Wilson’s disease (WD), reduce the misdiagnosis and improve the prognosis of patients. Methods The clinical data of 126 patients with WD (including clinical manifestations, head and abdominal imaging) from January 2008 to December 2014 in our hospital were retrospectively analyzed and analyzed. Results Among 126 WD patients, the male-female ratio was 75:51, and the median age was 21 years. 10.3% (13/126) of patients had a family history of WD, 87.3% (109/126) of patients showed neuropsychiatric symptoms, and 14.3% (18/126) of patients had liver disease as the first manifestation. The serum ceruloplasmin levels were lower than 200 mg / L in 126 patients with WD, and the level of ceruloplasmin was lower than 100 mg / L in 121 (96.0%) patients. 92.7% (102/110) patients (98.9% (97/109) were abnormal in patients who underwent abdominal imaging examination; 98.3% (115/117) patients were positive in KF ring examination of slit lamp cornea; and 1 patient was positive for rhodanine puncture in liver tissue. From the onset to the diagnosis of the time 3d ~ 19 years, the median time of 8 months, 20 patients (15.9%) had been misdiagnosed as other systemic diseases. Conclusion WD clinical manifestations of diverse, in patients with neurological symptoms associated with or without liver damage, or patients with clinically unexplained liver dysfunction, should take into account the possibility of this disease should be further detected copper metabolism-related indicators, corneal KF Rings, and even liver biopsy to identify.