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··《》《》SCI30xh_bjbj@yahoo.com.cn。DOI10.3969/j.issn.1003-515X.2012.08.001100034DifferentialDiagnosisofChildhoodHyperCKemiaXIONGHuiDepartmentofPediatricsPekingUniversityFirstHospitalBeijing100034ChinaCKCKCK1.5CKCK、。CKCKCKCK。CKCK-MB/CK10%CKCK-BB。CKCK-BB。、、、CK。CK、、、、。CK。CK、、、。2012278557-559R725.8A1003-515X201208-0557-03CK、、ATPATP1。CK、3CK-MMCK-MBCK-BB、、。CK2。CK-MMCK95%CK-MB5%CK-BB。1CKCK、、、、。CK。CK。CKCK1.53CKCKCK1。CKCK。1CK-/、CK2CK1CKCK-MBCK-MB/CK10%CK-MBCK-MBmassμg·L-1U·L-1。2CKCK-BB。34CK。4CK-BB、CKCK-BB、、。5、、、3CK。3CK19531958EbashiCK·755·27820124JApplClinPediatrVol.27No.8Apr.2012CK5。CKCKCK2。CK、CK。CKCK-MMCK-MB6。CK、、、、6。、、、、、。、、、7、。、、、、。、、、、、、、、、7。4CK4.1DuchennemusculardystrophyDMD/Beckermus-culardystrophyBMD。DMD/BMDXDMD8。DMD20/1CK9。22~610。3Gower+、。4CK50~100。。、。。dystrophin。。、。CK。10。4.2、-。、11。。、、、、、、、11。4.312。CKESR、Jo-1。4.4、、13。4.5rhabdomyolysisRMRM、、、CK、。RM20%~33%RM10%~15%。4.6CKRowlandCK·855·27820124JApplClinPediatrVol.27No.8Apr.2012、CKCKCK14。CK。5CKCK1CK12CK>1.51。2CK。32、。4CK2DMDCK10100。5、、、、、ESR、CRP、。C3、。6CK>3DMD、、DNA315。2、。1.M.2007100-101.2FalsaperlaRParanoERomanoCetal.HyperCKemiaasabiomarkerformusculardiseasesJ.ClinTer20101612185-187.3KyriakidesTAngeliniCSchaeferJetal.EuropeanFederationofNeuro-logicalSocieties.EFNSguidelinesonthediagnosticapproachtopauci-orasymptomatichyperCKemiaJ.EurJNeurol2010176767-773.4LuigettiMModoniARennaRetal.AcaseofCMT1BduetoVal102/fsnullmutationoftheMPZgenepresentingashyperCKemiaJ.ClinNeurolNeurosurg20101129794-797.5VassellaFRichterichRRossiE.ThediagnosticvalueofserumcreatinekinaseinneuromuscularandmusculardiseaseJ.Pediatrics196535322-330.6JacksonCE.AclinicalapproachtomusclediseasesJ.SeminNeurol2008282228-240.7Hilton-JonesDKisselJT.Theexaminationandinvestigationofthepa-tientwithmusclediseaseM.7thed.NewYorkCambridgeUniversityPress2001349-373.8.M.2.2009842-856.9AlmeidaDFMeloACJrBittencourtPR.DuchennegenecarrierascauseofasymptomatichyperCKemiaJ.ArqNeuropsiquiatr2008662B425-427.10VoitTTomeFM.ThecongenitalmusculardystrophiesM.3rded.NewYorkMcGraw-Hill20041203-1238.11BerardoADiMauroSHiranoM.AdiagnosticalgorithmformetabolicmyopathiesJ.CurrNeurolNeurosciRep2010102118-126.12ZafeiriouDIKatzosGGombakisNetal.ClinicalfeatureslaboratoryfindingsanddifferentialdiagnosisofbenignacutechildhoodmyositisJ.ActaPaediatr200089121493-1494.13Jacobs-KosminDDeHoratiusRJ.MusculoskeletalmanifestationsofendocrinedisordersJ.CurrOpinRheumatol200517164-69.14CapassoMDeAngelisMVDiMuzioAetal.Familialidiopathichy-perCKemiaAnunderrecognizedconditionJ.MuscleNerve2006336760-765.15FernandezCdePaulaAMFigarella-BrangerDetal.Diagnostice-valuationofclinicallynormalsubjectswithchronichyperCKemiaJ.Neurology200666101585-1587.2012-02-11songf_558@263.net。DOI10.3969/j.issn.1003-515X.2012.08.002昉100020ClinicalClassificationandGeneticDiagnosisofProximalSpinalMuscularAtrophySONGFangDepartmentofMedicalGeneticsCapitalInstituteofPediatricsBeijing100020China。。。。2012278559-561R725.8A1003-515X201208-0559-03proximalspinalmuscularatro-phySMA2。5q131survivalmotorneuron1SMN1SMA·955·27820124JApplClinPediatrVol.27No.8Apr.2012
本文标题:儿童血清肌酸激酶升高的鉴别诊断-熊晖
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