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King’s病例入选标准WangJS,EurJPediatr,2006,inpress病例排除标准BasicinformationThebasicandbiochemistrycharacteristicswithendpointwithoutendpointBirthweight(g)3353.3394.932410.3589.64*Ageofjaundicenoticed29.508.5913.491.28*BiochemistryatfirstpresentationTB(mmol/l)183.3328.14159.649.03DB(mmol/l)132.1718.81119.178.29AST(U/L)376.33113.92196.8019.77GGT(U/L)45.838.21165.8214.30*PeakbiochemistryatthefirstthreemonthsoffollowupTB(mmol/l)26474.06167.288.54AST(U/L)569.57180.4238.2224.23*GGT(U/L)58.717.43311.7120.68*PFICekyy入选标准结果进行性家族性肝内郁胆（PFIC）FIC1deficiencyFIC1deficiency(续)LowGGTincholestasisBSEPdeficiencyCase3CAGTAGExon18C2230TQ702StopCase5Intron22(+3)Exon7TA562G>TG188WCase5Case7LowGGTincholestasisBileacidsyntheticdefectBileacidsyntheticdefect-PFIC4对临床的意义对临床的意义对临床的意义“Transit”neonatalhepatitis根据入院时GGT分组，组织学表现有区别WangJS,EurJPediatr,2006,inpressGGTlevelsriseasbilirubin&ASTlevelsfall.Thereisawidevariationintimeintervalstopeakandresolutionofdisease.Thispatientpresentedonday10anddiseaseresolvedbyday151.BiochemistrydynamicprofileofpatientpresentingearlyChildrenwithidiopathicneonatalhepatitishavemoreseverediseaseiftheirpresentingGGTlevelsare≤100IU/LHowever,theoutcomeappearstobegoodiftheGGTbecomesraisedatalaterpointofdiseaseFurtherresearchisrequiredtoelucidatethecauseoflowGGTlevelsandestablishthepossibleetiologiesofidiopathicneonatalhepatitis.BSEPgenedeletionina“transit”neonatalhepatitis结论THANKYOU
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