143例肝豆状核变性的全身及眼部特征

Clinical features and the ocular manifestation of Wilson disease

目的探讨肝豆状核变性的全身及眼部特征、诊断要点。方法回顾性分析肝豆状核变性患者143例的临床表现及诊断要点。结果143例肝豆状核变性平均发病年龄（16．09±10．77）岁，其中小于15岁患者占60．14％；家族史总阳性率为31．47％。首诊误诊率为48．25％（69／143），其中被误诊为肝炎、肝硬化者最多，主要累及肝脏者占46．85％，主要累及神经精神系统者占37．06％，肝脏型比神经精神型发病年龄早（t=-8．206，P〈0．01）。生化检查谷草转氨酶64．46％，尿素氮27．27％，均升高明显。铜蓝蛋白降低率达94．12％，24h尿铜升高率达100％；血清铜检查降低率达92．68％，铜氧化酶吸光度阳性率达90．30％；腹部B超总异常率达94．06％；脑cT异常率达67．65％；脑MRI异常率达74．29％；骨骼x线检查异常率达68．42％；角膜K—F环总阳性率达90．71％，神经精神型（97．96％）比肝脏型（86．57％）K—F环阳性率高（xz=4．972，P〈0．05），有1例出现葵花样晶状体混浊。结论肝豆状核变性多见于青少年首发，其临床表现复杂多变、易误诊。角膜K—F环和葵花样晶状体混浊是肝豆状核变性的主要眼部特征；角膜K—F环分级大小与发病年龄和病程有一定关系；肝脏和神经精神症状为全身主要表现；肝脏B超可反映早期改变，特别是可用于症状前诊断；脑CT或MRI有助于明确脑部病变的部位、范围、程度；血清铜、铜蓝蛋白及24h尿铜检查具有特征性，可作为不典型或无症状患者早期诊断的线索。

Objective The manifestations and ocular signs and diagnostic criteria of Wilson＇s disease were analyzed.Methods The clinical manifestations and diagnostic criteria of 143 Wilson＇s cases were analyzed retrospectively.Results The mean age of 143 Wilson＇s cases at diagnosis of 16.09 ＋/-10.77 years（ 1 -51 years）;86 patients （60.14%）were under age of 15 ;The overall positive rate of family history was 31.47 % （45/143）.69 of 143 （48.2%）cases were misdiagnosed,mostly as the hepatitis and liver cirrhosis.The patients with neurological symptoms were significantly older at the onset of symptoms than patients with hepatic symptoms （23.04 ± 9.86 v 10.90± 6.26 years of age, t =-8.206,P 〈0.01 ）,with 46.85% of hepatic and 37.06% of neurological symptoms.The positive rate of GOT, BUN, serum caeruloplasmin, 24-h urinary copper excretion, serum copper,copper oxidase absorbency were reached at 64.46 % （78/121）,27.27 % （18/66）,94.12% （32/34）, 100% （ 50/50 ）, 92.68% （ 38/41 ）, 90.30%（ 121/134 ）, respectively.95 of 101 cases （94.06%）showed an ultrasonographical abnormality of abdomen, as well as 67.65%（ 23134 ）of abnormal brain CT, 74.29%（ 26/35 ）of abnormal brain MRI and 68.42% （26/38）abnormal bone X-ray,respectively.The overall positive rate of Kayser-Fleischer tings was 90.71% （ 127/140）.Those patients with neurological symptoms presented a significantly higher positive rate than that of cases with hepatic symptoms （97.96% v 86.57% ,x^2=4.972,P 〈0.05 ）, Conclusions The Wilson＇s disease often affected the youths initially whom usually showed a hepatic and neurological disorders that might lead to misdiagnosis.Kayser-Fleischer rings and swnflower cataract are maialy ocular sighs of uilson clisease.The fractionate size of kayser-Fleischer tings correlated with the age of onset andthe course of disease.Hepatic presentation and neurological presentation were mainly general manif e stations.Ul- trasonograpbical examination of abdomen can provide clinical evidences at the very early stage of disease, while the brain CT and MRI could be of significance to the location, extent and degree of focal lesion.The tests of serum caeruloplasmin, 24-h urinary copper excretion and serum copper were proved to be specific important to the diagnosis of Wilson＇s, especially to that with atypical symptoms or symptomless.