肝豆状核变性与慢性乙型肝炎重度患者临床特征分析

Clinical features of patients with Wilson's disease and hyperbilirubinemia: Comparison to patients with chronic hepatitis B of severe degree

目的观察肝豆状核变性(WD)伴黄疸患者的临床特征,探讨肝豆状核变性黄疸患者临床鉴别诊断的侧重点。方法回顾性分析52例以"黄疸待查"初次入院的WD患者的临床资料,包括临床表现和常规实验室指标的变化。采用序列分析法检测全血基因组8、12、13、16外显子的突变情况。结果本研究纳入WD患者24例和慢性乙型肝炎重度患者28例。WD患者发病中位年龄(33.2岁)显著低于乙型肝炎(41.8岁,P=0.049),WD患者自起病至明确诊断的中位时间(8.2月)显著长于乙型肝炎(1月,P<0.001);WD患者24 h尿铜水平(919.83±1017.15μg)显著高于乙型肝炎(204.79±191.85μg,P<0.001);WD患者血清γ-谷氨酰转肽酶水平(175.74±245.99U/L)显著高于乙型肝炎(133.44±115.95 U/L,P=0.004),且与24 h尿铜水平呈正相关(r=0.552,P=0.012);24例WD患者全部,而仅4例乙型肝炎患者可检出ATP7B突变。结论肝豆状核变性伴黄疸患者除可利用血清铜、铜蓝蛋白检测进行筛选性诊断外,24 h尿铜检测为重要的鉴别诊断指标,而血清γ-谷氨酰转肽酶可能是该病潜在的诊断指标。

Objective To explore the clinical features of patients with Wilson’s disease and hyperbiliru-binemia. Method Twenty-four patients with Wilson’s disease and twenty-eight with chronic hepatitis B of severe degree were included in this study. The manifestation and routine laboratory tests were collected. The peripheral blood ATP7B gene mutations in exon 8,12,13 and 16 were analyzed by direct sequencing. Results The pa-tients with WD had the features of significantly younger （33.2 vs. 41.8 yr old,P=0.049）,longer delay diagnosis time （8.2 vs. 1 month,P＆lt;0.001） as compared to patients with hepatitis B;the total urine copper in 24 hours was significantly elevated [（919.83±1017.15）μg vs. （204.79±191.85）μg,P〈0.001];the patients with WD had signifi-cantly higher serum glutamyltranspeptidase level [（175.74±245.99） U/L] as compared with in patients with hepati-tis B[（133.44±115.95） U/L,P=0.004],which had a positive correlation with 24 hours total urine copper drainage （r=0.552,P=0.012）;all the patients with WD were positive for ATP7B mutation,while only 4 patients with hep-atitis B positive. Conclusion Serum copper and ceruloplasmin levels may be useful for screening patients with WD and jaundice,and the 24 hour urine copper excretion is an important index for differential diagnosis from se-vere chronic hepatitis B.