胆盐代谢及转运和肝内胆汁淤积分子医学和临床的相互促进.pptx

胆盐代谢及转运和肝内胆汁淤积King’s病例入选标准Aug 1991 to Nov 2000, Conjugated hyperbilirubinemia under 3 months of age (973 cases)No specific etiologic factor can be ascertained after prehensive work-upFollowed up for at least one year or until diedWang JS, Eur J Pediatr, 2006, in press病例排除标准 INR1、2 and not be fully corrected after vitamin K injection Follow up interval longer than 3 months Other severe congenital abnormalitiesG6PD deficiency Evidence of active CMV infection in spite of no inclusion found on liver biopsy USS demonstrated bile duct dilation、Basic information128 cases elected, 110 biopsyed6 patients diagnosed as PFIC 1 or 2, 1 recurred jaundice、 GGT level with endpoints without endpointsPresentation 29-84 52、9%100Peak 36-93 13、2%100The basic and biochemistry characteristics with endpoint without endpointBirth weight (g) 3353、33?94、93 2410、35?89、64*Age of jaundice noticed 29、50?8、59 13、49?1、28*Biochemistry at first presentationTB (mmol/l) 183、33?28、14 159、64?9、03DB (mmol/l) 132、17?18、81 119、17?8、29AST (U/L) 376、33?113、92 196、80?19、77GGT (U/L) 45、83?8、21 165、82?14、30*Peak biochemistry at the first three months of follow upTB (mmol/l) 264?74、06 167、28?8、54AST (U/L) 569、57?180、4 238、22?24、23*GGT (U/L) 58、71?7、43 311、71?20、68*PFICekyy入选标准2001年6月～2004年5月就诊于传染科诊断为婴儿肝炎综合征同时符合以下指标血清总胆红素(TB)≥85umol/L血清结合胆红素(CB)占总胆红素≥15％腹部B超、同位素肝胆显像、遗传代谢病筛查等除外先天性胆道闭锁、胆道扩张及其他先天性异常(CMV指标阳性,但无多系统受累的不除外)专科门诊随访至黄疸消退、死亡或一年以上 结果最终有38例患者符合以上条件入院时的γ－GT按50U/L进行分组≤50U/L组6例,5例预后不良50U/L组32例,3例预后不良(P=0、001)峰值γ－GT 100U/L进行分组≤100U/L组10例,6例预后不良100U/L组28例,2例预后不良(P=0、002)血清GGT水平和预后的有关(和CMV状态无关)王中林、 肝脏 2005,(4)进行性家族性肝内郁胆(PFIC)First reported in Amish family (Byler disease), autosomal recessiv