ICU-中的高氨血症

115(adult);(ammonia);(hyperammonemia);(inbornerrorofmetabolism);(totalparenteralnutrition);(ureacycledisorder)ASS=argininosuccinatesynthetase;CPS=carbamylphosphatesynthetase;HHH=hyperammonemia-hyperornithinemia-homocitrullinuria;ICH=intracranialhypertension;IEM=inbornerrorofmetabolism;IHA=idiopathichyperammonemia;NAGS=N-acetylglutaminesynthetase;OTC=ornithinetranscarbamylase;TPN=totalparenteralnutrition;UCD=ureacycledis-orderICUICU(IEM)5——(1)116FromtheDepartmentofSurgery(Dr.Clay),DukeUniversitySchoolofMedicine,Durham,NC;andtheDivisionofClinicalBiochemicalGenetics(Dr.Hainline),DepartmentofMedicalandMolecularGenetics,IndianaUniversitySchoolofMedicine,Bloomington,IN.Correspondenceto:AlisonS.Clay,MD,FCCP,DepartmentofSurgeryandMedicine,DukeUniversityMedicalCenter,Box2945,Durham,NC27710;e-mail:[e-mail][1][2][3][45][1]()(2)(CPS)(OTC)(ASS)[69][410][461112][11113]5ND[11113]α16[13][12]αKrebs[1111314]5()[1111314]()[15][13][11114][112][1213](ICH)[1]()200µmol/L[1213][7]ND[1114]γ[13]117[9]ICH[791617]IEM(1)AB1NH32IEMICH[18][18][18][19][121820][13][20]N[18][21][1822][121823][24]118ICH40%[1225][1825][26][18][2728]Pro-PhreeAbbottNutritionColumbusOHPFD12(80056)MeadJohnsonEvansvilleIN100µmol/L()IEM(3)(4)[2930][2932][293334][35][36][313741](3)[39][4041][34]1(1)()(TURP)TPN(/)(/)//PCRCMVEBV(4)ICPICP20NSIRS//(D10)100µmol/LIEM3+(1)TURPSIRSEBVEBTBCMV119[41]L[42]()[4344][4548]OTC[314549]CPS[3148](2)(TPN)[5051][552][21][21][5357][58][545961][316267]IEMICU2000[44]17[68]39%13%12%()17%(EB)(2)(3UCD()CVVHD/CVAHD1(D10)23412ABNH34CVVHDHD10%TPNHDHDCVVHD/mcmol·L-1t/h04080120100200300120)()()[4344][69]Reye[7071]CPS[3172](UCD)[317382][8384][85][86]IEM[3187]βUCDIEMUCDUCD12500030000[313788]UCDOTCASSOTCUCDX[3789][8992]170X()OTC[5077788993100]CPS[101][82101108]CPS14[109]N(NAGS)CPS[110]NCPSNAGS[111][111114]NAGS2(1)()TPN()(TIPSS)(2)IEMOTCNAGSHHHIHA(1)TIPSS121[112]ASS170000100000[37115116]()()ASS[115]50%ASS[46115119]ASS[47115116](HHH)[37120123][37124127]UCD[121125]HHH[121][121128]HHH[129][124125130][130]UCD[313746507880889093101105115117119][374677889094][2931343846778081889093101102105125][3777101]()[31373850779093108121124129130](ASS)[3746115][102][115][90][367896108][5259][5457]()[115]TPNUCD(OTC3(1)HIVMDMA()UCDTPN(1)MDMA34122)[5078]TPNUCD(IHA)IHA5[131136][137]75%[131134]0.5%2.4%IHA[134][138]IHAIEM(1)/[43][43]CTUCDUCD[31384778115118129139][314778118][103139]()[118]IEM()OTCCPSASA5UCDASA123[3137140141][31](5)IEMDNA[142]OTC[141]UCD[373940143145][146147][146147]OTCUCDIEM1BachmannC.ClinChemLabMed2002;40:653–6622VinceA,etal.Gut1973;14:171–1773KarimZ,etal.NephronPhysiol2005;101:77–814OldeDaminkSW,etal.AmJPhysiolGastrointestLiverPhysiol2006;291:G189–G1945OldeDaminkSW,etal.MedHypotheses1999;52:515–5196ClemmesenJO,etal.Gastroenterology2000;118:1131–11397ClemmesenJO,etal.Hepatology1999;29:648–6538LockwoodAH.MetabBrainDis2004;19:345–3499OngJP,etal.AmJMed2003;114:188–19310OldeDaminkSW,etal.Hepatology2003;37:1277–128511ButterworthRF.JInheritMetabDis1998;21:6–2012VaqueroJ,etal.SeminLiverDis2003;23:259–26913ShawcrossD,etal.CellMolLifeSci2005;62:2295–230414ButterworthRF.MentRetardDevDisabilResRev2001;7:276–27915OttP,etal.NeurochemInt2005;47:13–1816StraussGI,etal.Gastroenterology2001;121:1109–111917ToftengF,etal.JCerebBloodFlowMetab2006;26:21–2718JalanR.SeminLiverDis2003;23:271–28219BleiAT,etal.Lancet1993;341:157–15820VaqueroJ,etal.JClinGastroenterol2005;39:S147–S15721SummarM,etal.CritCareClin2005;21(Suppl):S1–S822CanaleseJ,etal.Gut1982;23:625–62923ClemmesenJ,etal.Hepatology1997;26:1423–142524WijdicksEF,etal.TransplantProc2002;34:1220–122225EllisA,etal.Hepatology2000;38:536–54126WatanabeA,etal.Hepatology1997;26:1410–141427RolandoN,etal.Hepatology1993;17:196–20128RolandoN,etal.JHepatol1991;12:1–929ChangMY,etal.NephrolDialTransplant1999;14:1282–128430DonnSM,etal.JPediatr1979;95:67–7031TreemWR.SeminLiverDis1994;14:236–25832RutledgeSL,etal.JPediatr1990;116:125–12833FalkMC,etal.PediatrNephrol1994;8:330–33334MathiasRS,etal.AmJKidneyDis2001;37:1069–108035SummarM,etal.JPediatr1996;128:379–38236WongKY,etal.PediatrNephrol1998;12:589–59137BrusilowS,etal.Ureacycleenzymes.8thed.NewYork:McGraw-Hill,200138MizutaniN,etal.BrainDev1983;5:555–56339BatshawML,etal.JPediatr2001;138:S46–S5440BrusilowSW,etal.NEnglJMed1984;310:1630–163441BrusilowSW.JClinInvest1984;74:2144–214842MalaguarneraM,etal.DigDis2003;21:271–27543RahmanT,etal.IntensiveCareMed2001;27:467–47612444SassDA,etal.LiverTranspl2005;11:594–60545JanD,etal.TransplantProc1995;27:1706–170746IkedaS,etal.JNeurolNeurosurgPsychiatry2001;71:663–67047YazakiM,etal.Transplantation1996;62:1679–168448TodoS,etal.Hepatology1992;15:419–42249LargilliereC,etal.JPediatr1989;115:415–41750FeligDM,etal.Gastroenterology1995;109:282–28451BenqueA,etal.Gut1984;25:531–53352TrivediM,etal.JClinGastroenterol2001;32:340