02 佝偻病+手足抽搐症.ppt

,RicketsofVitaminDDeficiency,PengJingXiangyaHospital,CSU,2010.11,Background,Whathappenedtothesechildren?,Firstthoroughaccountofrickets,FrancisGlisson(1650),MartinseSilvaJ.ActaReumatolPort,2007.32:205.,MellanbyEdward(1918),Isolationoftheantiricketicfactorfromliveroil,MellanbyE.BrMedJ,1924,24:895,Adolfwindaus(1922),SyntheticallypreparevitaminD3,“nomorecampaignonrickets”,Inthe1970s,VeenaBahl.Nutrition&FoodScience,1993,81:2,RowePM.Lancet,2001,357:1100,Inthe2000s,“IthinkthisisamajorunrecognizedepidemicintheUnitedStates.Itaffectschildrenandadultsofallages,allraces,andbothsexes.Itsverysignificant.”“VitaminDdeficiencysymptomsinchildrenhavelongbeenoverlooked.”,TheLancet:“re-emergenceofrickets”,RicketsofvitaminDdeficiency营养性维生素D缺乏性佝偻病,Tobefamiliarwithitspathology,diagnosisanddifferentialdiagnosis,Teachingaims,Tomasteritsetiology,clinicalmanifestations,treatmentandpreventionofRickets,Definition,WhatisRickets?,Mineralization:矿化Osteoid:骨样组织Osteomalacia:骨软化症,ThesourceandconversionofVitaminD,ResourceofVitD,Calciferol(vitD2),Cholecalciferol(vitD3),7-dehydrocholesterolinskin,296310nm,Materno-fetus,Dietaryandtherapeuticsource,ActivationofVitD,VitD2VitD3,25(OH)D3,1,25(OH)2D3,DBP,Hydrooxylatedintherenal,HydrooxylatedintheLiver,Circulatingform,Biologicallyactiveform,Functionof1,25(OH)2D3,Facilitationofintestinalabsorptionofcalciumandphosphorus,Reabsorptionofphosphorusinthekidneys,Directeffectonmineralmetabolismofbone,Accommodationofcellproliferationandimmunesystem,Receptors（intestins,renal,bone）,Functionof1,25(OH)2D,Quiz,Tellusthefunctionof1,25(OH)2D3.,WhatisthebiologicallyactiveformofvitaminD?,25(OH)D3,WhatisthemajorcirculatingformofvitaminD?,1,25(OH)2D3,Antiricketicfunction：intestines,renal,boneOthers：anticancer，immunomodulation,Etiology,etiology,Disease,Inadequateintake,Rapidgrowth,Inadequateexposureinsunlight,VitDdeficiencyduringperinatalperiod,VitDdeficiencyduringperinatalperiod,WhetherallpregnanciesshouldbegivenvitaminDneedforalargeplacebo-controlleddouble-blindtrial.(Cochranecollaboration),etiology,Diseases,Inadequateintake,Rapidgrowth,Inadequateexposureinsunlight,VitDdeficiencyduringperinatalperiod,Inadequateexposureinsunlight,etiology,Disease,Inadequateintake,Rapidgrowth,Inadequateexposureinsunlight,VitDdeficiencyduringperinatalperiod,Rapidgrowth,etiology,Diseases,Inadequateintake,Rapidgrowth,Inadequateexposureinsunlight,VitDdeficiencyduringperinatalperiod,SupplycalciumwithoutVitD,Delayauxiliaryfoods(辅食)Milk：25IU/1LYolk：98IU/1g,Calciumdeficiency=VitaminDdeficiency,InadequateintakeofVitD,etiology,Diseases,Inadequateintake,Rapidgrowth,Inadequateexposureinsunlight,VitDdeficiencyduringperinatalperiod,Antiseizuretherapy,抗癫痫治疗,phenobarbital,Celiacdisease,Cysticdisease,胆道疾病,胃肠道疾病,苯巴比妥,Disease(chronicgastrointestinaldiseases/hepaticdisease/renaldisease),Quiz,Whatisthemajorcauseofrickets?,Inadequateexposureinsunlight,Pathology,骨的进一步生长,骺软骨不断生长并被骨组织替换。,Calcify,Ca*P,40钙盐沉着,35旧骨脱钙,钙磷的作用,34,Decreasedserumcalciumlevel,DeficiencyofVitDLesscalciumisabsorbedfromtheintestine,Hypocalcemic,Parathormone（PTH）,serumCaP,Mobilizationofcalciumandphosphorusfromthebone,kidneyDecreasephreabsorption,Maintaintheserumcalciumlevel,rickets,tetany,Afailureinmineralizationofgrowingboneorosteoidtissue,Mechanism,甲状旁腺素（PTH）,35,osteoporosisoccurs（骨膜增厚，骨质疏松软化）temporarycalcificationlinelostnormalshapeorextinction（临时钙化带失去正常形态或消失）Osteoidtissuestacking（骨样组织堆积）Epiphysealribbonbroader（干骺端变宽）,Parathyriodglands甲状旁腺,Quiz,Calciumdeficiency=VitaminDdeficiency,?,Quiz,Clinicalmanifestations,Couldyouhelpus,doctor?,Casereport,8-month-oldfemalechildExclusivelybreast-fedwithoutvitaminsupplementThemotherdidnotreceiveanyvitaminsorcalciumPresentedwithirritationandnightsweatingfor4monthsPhysicalexaminationshowedpulvinarbald(枕秃),cephalusquadratus（方颅）,withoutprimaryteetherupion.Clinicaldiagnosis?,RicketsofvitaminDdeficiency,Summary,Earlystage,Activerickets,Healingrickets,Sequelastage,3y,Osseouschanges+hypotonic+neuralsyndrome,早期,激期,恢复期,后遗症期,42,Neurologicsymptoms（sweatingandirritation）2.Noosseouschanges（骨骼无异常）craniotabes(颅骨软化)3.Serumcalciumandphosphorus,25(OH)VitDPTHAKP4.Xrayisnormal,Earlystage(3y),1.Noclinicalmanifestations2.NormalserumCa,PandAKP3.NormalXray4.Skeletaldeformities,Quiz,WhataremajorclinicalfeaturesofRicketsofVitDdeficiency?,61,佝偻病各期临床表现,Diagnosis,laboratory,RadiographicexamSerumlevelsofcalciumandphosphorusElevatedPTHandAKPUrinalysis,renalandliverfunction。,PrematurityMedicalhistory(gestationalage,diet,degreeofsunlightexposure,familyhistory,disease)Physicalexamination,clinical,Diagnosis,Serum25-(OH)Dlevelisdecreased(20ng/mL)*,64,Differentialdiagnosis,65,Differentialdiagnosis,RicketsofantiVitD(抗维生素D佝偻病)1.X-linkedhypophosphatemicrickets(低血磷性抗维生素D佝偻病)2.renaltubuleacidosis(远端肾小管性酸中毒)3.vitaminD-dependentrickets(VitD依赖性佝偻病)4.renalrickets(肾性佝偻病)5.liverrickets(肝性佝偻病)stronglys/orecentAsphyxia,Mucopolysaccharidosis(粘多糖病)achondroplasia(软骨发育不全)Hydrocephalus(脑积水)s/orecentAsphyxia,66,粘多糖病,鉴别诊断,67,软骨发育不良,鉴别诊断,68,脑积水,Treatment,Treatment,vitaminD,Calcium,71,objective:Controldiseaseandpreventbonedeformity.,Naturalandartificialsunlightexposure2.OraladministrationofVitDVitD22000-4000IU/d2-4w400IU/dcalcifediol(2g/kg.d)calcitriol(0.050.2g/kg.d)3.IntramuscleinjectionofVitD2/3VitD30-60万IU1-3times4.Calcium0.5-1.0g/d,30to75mg/kg.d(hungrybone),72,MonitoringAftertreatmentinitiation,allpatientswillrequiredcarefulmonitoring.,Serumca,pandAKP,urinaryca/creatinineratioandkidneyfunctionshouldbemeasure4weeksafterthestartoftherapy.Thesetestsshouldberepeatedafter3months.AriseinthelevelofphosphorusfollowedbycalciumReappearanceofurinarycalciumexcretion,2.Radiograhsshouldbeobtainedafter3monthsoftherapy.Iftheradiographsdonotshowevidenceofhealing,thepossibilityofpooradherencetotreatment,malabsorption,orofotherformsofricketsshouldbeconsidered.,73,Prevention,BreastfeedingEnsureadequateexposuretosunlightVitaminDsupplementationisrecommended400IU/dPrematureneonate、multiplefetals、lowbirthweightinfants：1weekafterbirth800IU/d*3mon400IU/dFulltermneonate：2weeksafterbirth400IU/d*2yearsold4.VitDforpregnantwomen,74,TheAmericanAcademyofpediatrics(AAP),allbreastfedinfantandbottlefedinfants(receivinglessthan500mlformuladaily)shouldreceive200IUvitaminDdaily.,75,TetanyofvitaminDdeficiency维生素D缺乏性手足搐搦症,76,Generalconsideration,77,Generalconsideration,TetanyofvitaminDdeficiencyoccursmostfrequentlyundertheagesof6month.,TetanyisraretodayowingtowidespreadprophylacticuseofvitaminD.Tetanyisoccasionallyassociatedwithceliacdisease,suchasdiarrhea.,78,Definition,VitDdeficiencycauseshypocalcemiadirectlyincreasesperipheralneuromuscularirritability,whichcancauseconvulsionorlocalmuscletic,79,Pathology,80,结合钙-Constructingofbone99%游离钙-Accommadationincellexcretion,signalentrainment,stimulatednervemuscleconvection,bloodclotting,andbloodoxygentraffic,BiologicfunctionofCa,81,SerumCa,AccommodationofCal1,25（OH）2D3、PTH、CTPHPlasmaproteinconcentrationPlasmaphosphorusconcentration,ThecomposeofSerumCa(1%)ionicCa（47%）:physioactivityproteinbindingCa（47%）:unactivitycompound（6%）:bindingwithorganicacidandinorganicacid,unactivity,82,hypocalcemia,DeficiencyofVitDLesscalciumisabsorbedfromtheintestine,hypocalcemia,Parathormone（PTH）,100,No,serumCaP*,Mobilizationofcalciumandphosphorusfromthebone,kidneyDecreasephreabsorption,Maintaintheserumcalciumlevel,rickets,tetany,Afailureinmineralizationofgrowingboneorosteoidtissue,Mechanism,83,Clinicalmanifestations,84,Clinicalmanifestations,LatenttetanyNosymptomsPositivesignsChvostekTrousseauPeronealreflexserumcalciumleveris