两种婴儿胆汁淤积性疾病的临床特征比较  

Comparison of the Clinical Features of Two Infantile Cholestasis Diseases

作　　者：熊小丽[1] 鄢素琪[1] 丁艳[1] 江治霞[1] 袁凯[1] 周俪姗[1] 陈鹏[1] 

机构地区：[1]武汉市儿童医院,湖北武汉430016

出　　处：《武汉大学学报（医学版）》2015年第2期306-311,共6页Medical Journal of Wuhan University

基　　金：武汉市青年科技晨光计划项目(编号:201150431082)

摘　　要：目的:新生儿肝内胆汁淤积症(NICCD)在早期容易误诊成胆道闭锁(BA),收集其临床资料,为其早期诊断提供临床依据。方法:回顾性分析2010年1月至2013年1月武汉市儿童医院住院的BA患儿43例和NICCD患儿19例,记录出生体重、入院时的生化资料、胆囊超声、氨基酸谱,并进行分析;对BA组的谷氨酰转肽酶(GGT)和NICCD组的血糖(GLU)绘制ROC曲线,分析其临床资料特点。结果:1BA组出生体重[(3.17±0.39)kg]高于NICCD组[(2.71±0.56)kg](P<0.01)。2 BA组的总胆红素(TBIL)[212.4(174.5-267.4)μmol/L]、直接胆红素(DBIL)[(131.88±36.52)μmol/L]、总蛋白(TP)[(56.58±5.69)g/L]、白蛋白(ALB)[41.3(37.4-43.8)g/L]、氨酸氨基转移酶(AST)[256(151-393)U/L]、天冬氨酸氨基转移酶(ALT)[149(92-287)U/L]、GGT[429(300-937)U/L]、前蛋白(PA)[103.9(86.7,133)mg/L]高于NICCD组[175.1(146-203)μmol/L、(62.23±25.58)μmol/L、(46.31±5.88)g/L、30.3(29.6-35.1)g/L、128(90-182)U/L、42(26-72)U/L、193(154-281)U/L、45(30.2-72.8)mg/L](P<0.01或P<0.05);BA组的GLU[4.47(4.04-4.63)mmol/L]、血氨(AMMO)[47(35-54)μmol/L]、乳酸(LAC)[3.74(2.78-4.30)mmol/L]、总胆汁酸(TBA)[100(96-121)μmol/L]分别低于NICCD组患儿的[2.79(2.3-4.43)mmol/L]、[56(43-94)μmol/L]、[5.27(4.34-7.66)mmol/L]、[148(125-160)μmol/L](P<0.01或P<0.05);BA组与NICCD组球蛋白(GLB)无统计学差异(P>0.05);对BA组GGT>191.5U/L,NICCD组GLU<3.515mmol/L,有较高的诊断价值。3BA组胆囊超声表现胆囊形态和收缩功能异常,NICCD组胆囊超声正常。4NICCD组多种氨基酸异常,以瓜氨酸升高的幅度最大;BA组中仅谷氨酸升高。结论:患儿胆汁淤积同时出生时的体重偏低,TP、ALB、GLU低于正常值,GLU值低于3.515mmol/L,胆囊超声正常、多种氨基酸异常尤其以瓜氨酸升高为主倾向于NICCD诊断;患儿胆汁淤积同时出生体重、TP、ALB、GLU正常,GGT值明显升高,且大于191.5U/L,胆囊超声形态和收缩功能异常,仅谷氨酸升高倾向于BA诊断。Objective：To review the cases of neonatal intrahepatic cholestasis caused by citrin deficiency（NICCD）and biliary atresia（BA）,and to provide clinical basis for their early diagnosis.Methods：We retrospectively analyzed birth weight,biochemical information on admission to hospital,gallbladder ultrasound,and amino acid spectrum of 43 cases BA and 19 cases NICCD who hospitalized in Wuhan Children＇s Hospital from March 2010 to December 2013.ROC curve of gamma glutamy l transpeptidase（GGT）in BA group and blood glucose（GLU）in NICCD groupwere drawn,and the clinical characteristics were compared.Results：1Birth weight of BA group was higher than that in NICCD group（P0.01）.2TBIL,DBIL,TP,ALB,AST,ALT,GGT,PA of BA group were higher than those of NICCD group（P0.01,P0.05）;GLU,AMMD,LAC,TBA of BA group were lower than that of NICCD group（P0.01,P0.05）;GLB in BA group and NICCD group had no statistical difference;GGT191.5U/L in BA group and GLU3.515mmol/L in NICCD group has diagnostic value.3The gallbladder ultrasound of BA group showed gallbladder abnormal shape and contraction function;while NICCD group showed normal gallbladder ultrasound.4 Multiple amino acids are abnormal in NICCD group,with obvious citrulline change.Only glutamic acid elevated in BA group.Conclusion：NICCD children usually have low birth weight,the values of TP and ALB are below normal,GLU values are below 3.515mmol/L,gallbladder ultrasound shows normal,multiple amino acids show abnormal,especially citrulline elevates obviously.BA children have normal birth weight,TP,ALB,PT,FIB,and GLU significantly increased,GGT value is above 191.5 U/L,abnormal shape and contraction function are found in gallbladder ulatrasound,and glutamic acid level is elevated only.

关 键 词：胆道闭锁 新生儿肝内胆汁淤积症 CITRIN缺陷 SLC25A13 胆汁淤积 

分 类 号：R729[医药卫生—儿科]