目的:研究辅助诊断肝型Wilson病(WD)患者肝纤维化无创诊断技术指标的水平及其检测意义。方法:回顾分析2021年8月~2022年9月在安徽中医药大学神经病学研究所附属医院住院的126例肝型与脑型WD患者,检测并比较两型患者的肝纤维化无创诊断...目的:研究辅助诊断肝型Wilson病(WD)患者肝纤维化无创诊断技术指标的水平及其检测意义。方法:回顾分析2021年8月~2022年9月在安徽中医药大学神经病学研究所附属医院住院的126例肝型与脑型WD患者,检测并比较两型患者的肝纤维化无创诊断技术指标的水平,包括肝脏B超单点剪切波弹性成像(pSWE)值、血清肝纤维化指标[透明质酸(HA)、层黏蛋白(LN)、Ⅳ型胶原(CⅣ)、Ⅲ型前胶原N端肽(PⅢNP)]及肝纤维化无创模型指数[天冬氨酸氨基转移酶和血小板比率指数(APRI)、肝纤维化4因子指数(FIB-4)、γ-谷氨酰转肽酶和血小板比值(GPR)、De-Ritis指数、哥德堡大学肝硬化指数(GUCI)评分及King评分]。结果:肝型WD与脑型比较pSWE[2.2(1.5,2.5)m/s vs 1.3(1.2,1.7)m/s]、HA[148.4(50.3,426.1)ng/ml vs 50.0(50.0,90.1)ng/ml]、LN[72.5(43.9,128.4)ng/ml vs 40.4(30.9,47.7)ng/ml]、CⅣ[168.7(92.2,327.0)ng/ml vs 66.9(55.5,88.4)ng/ml]、PⅢNP[13.0(9.4,23.6)ng/ml vs 8.8(6.3,10.4)ng/ml]、APRI[1.1(0.6,2.1)vs 0.3(0.2,0.5)]、FIB-4[1.4(0.8,3.5)vs 0.9(0.5,1.4)]、GPR[0.8(0.4,2.2)vs 0.2(0.1,0.4)]、GUCI评分[1.4(0.8,3.1)vs 0.4(0.3,0.7)]及King评分[13.9(7.0,33.7)vs 4.5(3.0,8.5)]均显著增加;De-Ritis指数在两组间差异无统计学意义(P>0.05)。结论:肝纤维化无创诊断技术指标(De-Ritis指数除外)均可用于辅助判断肝型WD的肝纤维化状况;三者联合运用,对及早发现肝型WD肝脏纤维化,防止发生严重肝病,具有重要临床价值。展开更多
BACKGROUND Wilson disease(WD)is the most common genetic metabolic liver disease.Some studies have shown that comorbidities may have important effects on WD.Data on hepatitis B virus(HBV)infection in patients with WD a...BACKGROUND Wilson disease(WD)is the most common genetic metabolic liver disease.Some studies have shown that comorbidities may have important effects on WD.Data on hepatitis B virus(HBV)infection in patients with WD are limited.AIM To investigate the prevalence and clinical impact of HBV infection in patients with WD.METHODS The clinical data of patients with WD were analyzed retrospectively,and the data of patients with concurrent WD and HBV infection were compared with those of patients with isolated WD.RESULTS Among a total of 915 WD patients recruited,the total prevalence of current and previous HBV infection was 2.1%[95%confidence interval(CI):1.2%-3.0%]and 9.2%(95%CI:7.3%-11.1%),respectively.The main finding of this study was the identification of 19 patients with concurrent WD and chronic hepatitis B(CHB)infection.The diagnosis of WD was missed in all but two patients with CHB infection.The mean delay in the diagnosis of WD in patients with concurrent WD and CHB infection was 32.5 mo,which was significantly longer than that in patients with isolated WD(10.5 mo).The rates of severe liver disease and mortality in patients with concurrent WD and CHB infection were significantly higher than those in patients with isolated WD(63.1%vs 19.3%,P=0.000 and 36.8%vs 4.1%,P<0.001,respectively).Binary logistic regression analysis revealed a significantly higher risk of severe liver disease at the diagnosis of WD in patients with current HBV infection[odds ratio(OR)=7.748;95%CI:2.890-20.774;P=0.000)]or previous HBV infection(OR=5.525;95%CI:3.159-8.739;P=0.000)than in patients with isolated WD.CONCLUSION The total prevalence of current HBV infection in patients with WD was 2.1%.The diagnosis of WD in CHB patients is usually missed.HBV infection is an independent risk factor for severe liver disease in WD patients.The diagnosis of WD should be ruled out in some patients with CHB infection.展开更多
Wilson disease is an autosomal recessive disorder affecting the ATP7B gene located on chromosome 13q.This leads to copper deposition in various organs,most importantly in the liver and brain.The genetic mutations are ...Wilson disease is an autosomal recessive disorder affecting the ATP7B gene located on chromosome 13q.This leads to copper deposition in various organs,most importantly in the liver and brain.The genetic mutations are vast,well reported in the West but poorly documented in developing countries.Hence the diagnosis is made with a constellation of clinico-laboratory parameters which have significant overlap with other liver diseases and often pose a significant dilemma for clinicians.Diagnostic scoring systems are not fool-proof.The availability and affordability of chelators in developing countries impact the drug compliance of patients.While D-penicillamine is a potent drug,its side effects lead to drug discontinuation.Trientine is cost-prohibitive in developing countries.There is no single test to assess the adequacy of chelation.Exchangeable urinary copper is an essential upcoming diagnostic and prognostic tool.In the presence of cirrhosis,hypersplenism clouds the assessment of myelosuppression of drugs.Similarly,it may be difficult to distinguish disease tubulopathy from druginduced glomerulonephritis.Neurological worsening due to chelators may appear similar to disease progression.Presentation as fulminant hepatic failure requires rapid workup.There is a limited window of opportunity to salvage these patients with the help of plasmapheresis and other liver-assisted devices.This review addresses the challenges and clinical dilemmas faced at beside in developing countries.展开更多
文摘目的:研究辅助诊断肝型Wilson病(WD)患者肝纤维化无创诊断技术指标的水平及其检测意义。方法:回顾分析2021年8月~2022年9月在安徽中医药大学神经病学研究所附属医院住院的126例肝型与脑型WD患者,检测并比较两型患者的肝纤维化无创诊断技术指标的水平,包括肝脏B超单点剪切波弹性成像(pSWE)值、血清肝纤维化指标[透明质酸(HA)、层黏蛋白(LN)、Ⅳ型胶原(CⅣ)、Ⅲ型前胶原N端肽(PⅢNP)]及肝纤维化无创模型指数[天冬氨酸氨基转移酶和血小板比率指数(APRI)、肝纤维化4因子指数(FIB-4)、γ-谷氨酰转肽酶和血小板比值(GPR)、De-Ritis指数、哥德堡大学肝硬化指数(GUCI)评分及King评分]。结果:肝型WD与脑型比较pSWE[2.2(1.5,2.5)m/s vs 1.3(1.2,1.7)m/s]、HA[148.4(50.3,426.1)ng/ml vs 50.0(50.0,90.1)ng/ml]、LN[72.5(43.9,128.4)ng/ml vs 40.4(30.9,47.7)ng/ml]、CⅣ[168.7(92.2,327.0)ng/ml vs 66.9(55.5,88.4)ng/ml]、PⅢNP[13.0(9.4,23.6)ng/ml vs 8.8(6.3,10.4)ng/ml]、APRI[1.1(0.6,2.1)vs 0.3(0.2,0.5)]、FIB-4[1.4(0.8,3.5)vs 0.9(0.5,1.4)]、GPR[0.8(0.4,2.2)vs 0.2(0.1,0.4)]、GUCI评分[1.4(0.8,3.1)vs 0.4(0.3,0.7)]及King评分[13.9(7.0,33.7)vs 4.5(3.0,8.5)]均显著增加;De-Ritis指数在两组间差异无统计学意义(P>0.05)。结论:肝纤维化无创诊断技术指标(De-Ritis指数除外)均可用于辅助判断肝型WD的肝纤维化状况;三者联合运用,对及早发现肝型WD肝脏纤维化,防止发生严重肝病,具有重要临床价值。
文摘BACKGROUND Wilson disease(WD)is the most common genetic metabolic liver disease.Some studies have shown that comorbidities may have important effects on WD.Data on hepatitis B virus(HBV)infection in patients with WD are limited.AIM To investigate the prevalence and clinical impact of HBV infection in patients with WD.METHODS The clinical data of patients with WD were analyzed retrospectively,and the data of patients with concurrent WD and HBV infection were compared with those of patients with isolated WD.RESULTS Among a total of 915 WD patients recruited,the total prevalence of current and previous HBV infection was 2.1%[95%confidence interval(CI):1.2%-3.0%]and 9.2%(95%CI:7.3%-11.1%),respectively.The main finding of this study was the identification of 19 patients with concurrent WD and chronic hepatitis B(CHB)infection.The diagnosis of WD was missed in all but two patients with CHB infection.The mean delay in the diagnosis of WD in patients with concurrent WD and CHB infection was 32.5 mo,which was significantly longer than that in patients with isolated WD(10.5 mo).The rates of severe liver disease and mortality in patients with concurrent WD and CHB infection were significantly higher than those in patients with isolated WD(63.1%vs 19.3%,P=0.000 and 36.8%vs 4.1%,P<0.001,respectively).Binary logistic regression analysis revealed a significantly higher risk of severe liver disease at the diagnosis of WD in patients with current HBV infection[odds ratio(OR)=7.748;95%CI:2.890-20.774;P=0.000)]or previous HBV infection(OR=5.525;95%CI:3.159-8.739;P=0.000)than in patients with isolated WD.CONCLUSION The total prevalence of current HBV infection in patients with WD was 2.1%.The diagnosis of WD in CHB patients is usually missed.HBV infection is an independent risk factor for severe liver disease in WD patients.The diagnosis of WD should be ruled out in some patients with CHB infection.
文摘Wilson disease is an autosomal recessive disorder affecting the ATP7B gene located on chromosome 13q.This leads to copper deposition in various organs,most importantly in the liver and brain.The genetic mutations are vast,well reported in the West but poorly documented in developing countries.Hence the diagnosis is made with a constellation of clinico-laboratory parameters which have significant overlap with other liver diseases and often pose a significant dilemma for clinicians.Diagnostic scoring systems are not fool-proof.The availability and affordability of chelators in developing countries impact the drug compliance of patients.While D-penicillamine is a potent drug,its side effects lead to drug discontinuation.Trientine is cost-prohibitive in developing countries.There is no single test to assess the adequacy of chelation.Exchangeable urinary copper is an essential upcoming diagnostic and prognostic tool.In the presence of cirrhosis,hypersplenism clouds the assessment of myelosuppression of drugs.Similarly,it may be difficult to distinguish disease tubulopathy from druginduced glomerulonephritis.Neurological worsening due to chelators may appear similar to disease progression.Presentation as fulminant hepatic failure requires rapid workup.There is a limited window of opportunity to salvage these patients with the help of plasmapheresis and other liver-assisted devices.This review addresses the challenges and clinical dilemmas faced at beside in developing countries.
