佝偻病手足抽搐症.pptx

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1、Background第1页/共92页Whathappenedtothesechildren?第2页/共92页FirstthoroughaccountofricketsFrancisGlisson(1650)FrancisGlisson(1650)Martins e Silva J.Acta Reumatol Port,2007.32:205.Martins e Silva J.Acta Reumatol Port,2007.32:205.第3页/共92页Mellanby Edward(1918)IsolationoftheantiricketicfactorfromliveroilIsolat

2、ionoftheantiricketicfactorfromliveroil Mellanby E.Mellanby E.Br Med J,Br Med J,1924 1924,24:895,24:895 第4页/共92页Adolfwindaus(1922)Adolfwindaus(1922)SyntheticallypreparevitaminD3第5页/共92页“no more campaign on rickets”Inthe1970sVeena Bahl.Nutrition&Food Science,1993,81:2Veena Bahl.Nutrition&Food Science,

3、1993,81:2 第6页/共92页Rowe PM.LancetRowe PM.Lancet,20012001,357:1100357:1100Inthe2000sInthe2000s“I think this is a“I think this is a major major unrecognized epidemicunrecognized epidemic in in the United States.It affects the United States.It affects children and adults of all children and adults of al

4、l ages,all races,and both ages,all races,and both sexes.Its very significant.”sexes.Its very significant.”“Vitamin D deficiency“Vitamin D deficiency symptoms in children symptoms in children have have long been overlookedlong been overlooked.”.”TheLancet:“re-emergenceofrickets”“re-emergenceofrickets

5、”第7页/共92页 Rickets of vitamin D deficiency 营养性维生素D缺乏性佝偻病第8页/共92页To be familiar with its pathology,diagnosis and differential diagnosisTeachingaimsTo master its etiology,clinical manifestations,treatment and prevention of Rickets第9页/共92页Definition第10页/共92页 WhatisRickets?Mineralization:矿化Osteoid:骨样组织Os

6、teomalacia:骨软化症RicketsisthetermsignifyingafailureinmineralizationofgrowingboneorosteoidtissueduetodeficiencyofvitaminD第11页/共92页ThesourceandconversionofVitaminD第12页/共92页ResourceofVitDCalciferol(vitD2)Cholecalciferol(vitD3)7-dehydrocholesterol in skin296310nmMaterno-fetus Dietary and therapeutic sourc

7、e第13页/共92页ActivationofVitDVitD2VitD325(OH)D31,25(OH)2D3DBPHydrooxylated in the renalHydrooxylated in the LiverCirculatingformBiologicallyactiveform第14页/共92页 Functionof1,25(OH)2D3Facilitation of intestinal Facilitation of intestinal absorption of calcium and absorption of calcium and phosphorusphosph

8、orusReabsorption of phosphorus in the kidneysDirect effect on mineral metabolism of boneAccommodation of cell proliferation and immune systemReceptors（intestins,renal,bone）第15页/共92页Functionof1,25(OH)2D第16页/共92页 QuizTell us the function of 1,25(OH)2D3.What is the biologically active form of vitamin D

9、?25(OH)D3 What is the major circulating form of vitamin D?1,25(OH)2D3Antiricketic function：intestines,renal,boneOthers：anticancer，immunomodulation第17页/共92页Etiology第18页/共92页etiologyDiseaseInadequateintakeRapidgrowthInadequateexposureinsunlightVitDdeficiencyduringperinatalperiodchildren第19页/共92页VitDde

10、ficiencyduringperinatalperiod Whether all pregnancies should be given vitamin D need for a large placebo-controlled double-blind trial.(Cochrane collaboration)第20页/共92页etiologyDiseasesInadequateintakeRapidgrowthInadequateexposureinsunlightVitDdeficiencyduringperinatalperiodchildren第21页/共92页SeasonsRe

11、gionsSkincolourslatitudesInadequateexposureinsunlight Spring AutumCity Countryside Black Asian WhiteHigher Lower第22页/共92页etiologyDiseaseInadequateintakeRapidgrowthInadequateexposureinsunlightVitDdeficiencyduringperinatalperiodchildren第23页/共92页Rapidgrowth Multiple SinglePremature Full term第24页/共92页et

12、iologyDiseasesInadequateintakeRapidgrowthInadequateexposureinsunlightVitDdeficiencyduringperinatalperiodchildren第25页/共92页Supply calcium without VitDDelay auxiliary foods(辅食)Milk：25 IU/1LYolk：98IU/1gCalcium deficiency =Vitamin D deficiencyInadequateintakeofVitD第26页/共92页etiologyDiseasesInadequateintak

13、eRapidgrowthInadequateexposureinsunlightVitDdeficiencyduringperinatalperiodchildren第27页/共92页Antiseizuretherapy抗癫痫治疗phenobarbitalCeliacdiseaseCysticdisease胆道疾病胃肠道疾病苯巴比妥Disease(chronicgastrointestinaldiseases/hepaticdisease/renaldisease)第28页/共92页 Quiz What is the major cause of rickets?Inadequate expo

14、sure in sunlight第29页/共92页Pathology第30页/共92页骨的进一步生长软骨储备区软骨增生区软骨钙化区成骨区q 骺软骨不断生长并被骨组织替换。第31页/共92页CalcifyCa*P 40钙盐沉着 35旧骨脱钙钙磷的作用第32页/共92页33DecreasedserumcalciumlevelDeficiencyofVitDLesscalciumisabsorbedfromtheintestineHypocalcemicParathormone（PTH）serumCaPMobilizationofcalciumandphosphorusfromthebonekidn

15、eyDecreasephreabsorptionMaintaintheserumcalciumlevelricketstetanyAfailureinmineralizationofgrowingboneorosteoidtissueMechanism甲状旁腺素（PTH）第33页/共92页341.osteoporosis occurs（骨膜增厚，骨质疏松软化）2.temporary calcification line lost normal shape or extinction（临时钙化带失去正常形态或消失）3.Osteoid tissue stacking（骨样组织堆积）4.Epiphy

16、seal ribbon broader（干骺端变宽）第34页/共92页Parathyriodglands甲状旁腺Tetany ofVitamin D deficiencyRickets ofvitamin D deficiencyVitaminDdeficincy Quiz 第35页/共92页 Calcium deficiency =Vitamin D deficiency?Quiz 第36页/共92页Clinicalmanifestations第37页/共92页Couldyouhelpus,doctor?第38页/共92页Casereport8-month-old female childE

17、xclusively breast-fed without vitamin supplementThe mother did not receive any vitamins or calciumPresented with irritation and night sweating for 4 monthsPhysical examination showed pulvinar bald(枕秃),cephalus quadratus（方颅）,without primary teeth erupion.Clinical diagnosis?RicketsofvitaminDdeficiency

18、 第39页/共92页SummaryEarly stage Active rickets Healing ricketsSequela stage 3yOsseouschanges+hypotonic+neuralsyndrome早期激期恢复期 后遗症期第40页/共92页411.Neurologicsymptoms（sweatingandirritation）2.Noosseouschanges（骨骼无异常）craniotabes(颅骨软化)3.Serumcalciumandphosphorus,25(OH)VitDPTHAKP4.XrayisnormalEarlystage(6m)第41页/共

19、92页Question 1 Why？NeurologicNeurologicsymptomssymptomsSweatingIrritation 第42页/共92页IrritationBonepainnervemuscleexcitabilityincreasedhypocalcemiavitDdeficiencyMechanism低钙血症低钙血症神经、肌肉兴奋性增高神经、肌肉兴奋性增高激惹、骨痛激惹、骨痛第43页/共92页Question 2 Why is that?pulvinar bald（枕秃）night sweating（盗汗）第44页/共92页451.Neurologicsympt

20、oms（sweatingandirritation）2.Noosseouschanges（骨骼无异常）craniotabes(颅骨软化)3.Serumcalciumandphosphorus,25(OH)VitDPTHAKP4.XrayisnormalEarlystage(1yr）Bowlegs (“O”型腿)Knock-knees (“X”型腿)第51页/共92页hypotony Crookback （驼背）Frog belly(蛙腹)第52页/共92页2010.11Question4:Howtoconfirmthediagnosis第53页/共92页BiochemistryBiochemi

21、stryLabsCalcium:2(2.25 2.75mmol/L)Phosphorus:1(1.3 2.3mmol/L)CaP:35 (35 45mg/dL)PTH:10（110pmol/L）AKP:240（50240U/L)Golden standard:Golden standard:Serum 25-(OH)DSerum 25-(OH)D3 3 level is decreased(20ng/mL)*level is decreased(20ng/mL)*第54页/共92页 X ray changes第55页/共92页BiochemistryBiochemistryCalcium an

22、d phosphorus AKP PTH25(OH)VitD AlterationofAlterationofbonesbonesRadiographyRadiographyNeurologicNeurologicsymptomssymptomsCraniotabes Pigeon breast Bowlegs and knock-kneesCephalus quadratusRachiticOsteoporosis Temporary calcification line extinction Osteoid tissue stacking Epiphyseal ribbon broader

23、SummarySweatingIrritation 第56页/共92页57Healing rickets(6m-2y)1.Clinicalmanifestationsbecomeinvisible2.Serumbiochemistryexamsarebecomingnormal.3.Xraysarebecomingnormal第57页/共92页58Sequela stage(3y)1.Noclinicalmanifestations2.NormalserumCa,PandAKP3.NormalXray4.Skeletaldeformities第58页/共92页 Quiz What are ma

24、jor clinical features of Rickets of VitD deficiency?第59页/共92页60 分期分期 初期初期 激期激期 恢复期恢复期 后遗症期后遗症期神经神经肌肉肌肉改变改变 夜啼夜啼 多汗多汗 激惹激惹 运动机能迟缓运动机能迟缓 肌张力低下肌张力低下 智力发育低下智力发育低下 好转好转 无无骨骼骨骼改变改变 无无 骨骼软化骨骼软化 骨样组织堆积骨样组织堆积 好转好转 畸形畸形生化生化检查检查 X X线线 PTH Ca P AKP 25(OH)D(-)(-)PTH Ca P AKP 25(OH)D (+)(+)好转好转 好转好转 正常正常 正常正常 佝偻病

25、各期临床表现第60页/共92页Diagnosis第61页/共92页laboratoryRadiographic examSerum levels of calcium and phosphorusElevated PTH and AKPUrinalysis,renal and liver function。PrematurityMedical history (gestational age,diet,degree of sunlight exposure,family history,disease)Physical examinationclinicalDiagnosisSerum 25-

26、(OH)D level is decreased(20ng/mL)*第62页/共92页63Differentialdiagnosis第63页/共92页64Differential diagnosisRickets of anti VitD(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/o

27、recentAsphyxiaMucopolysaccharidosis(粘多糖病)achondroplasia(软骨发育不全)Hydrocephalus(脑积水)s/orecentAsphyxia第64页/共92页65 粘多糖病鉴别诊断第65页/共92页66软骨发育不良鉴别诊断第66页/共92页67脑积水第67页/共92页Treatment第68页/共92页Treatment sunlight exposure vitaminDvitaminDCalcium第69页/共92页70objective:Controldiseaseandpreventbonedeformity.1.Naturala

28、ndartificial sunlight exposure2.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)第70页/共92页71MonitoringAftertreatmentinitiation,allpatientswillrequiredcaref

29、ulmonitoring.1.Serumca,pandAKP,urinaryca/creatinineratioandkidneyfunctionshouldbemeasure4weeksafterthestartoftherapy.Thesetestsshouldberepeatedafter3months.AriseinthelevelofphosphorusfollowedbycalciumReappearanceofurinarycalciumexcretion2.Radiograhsshouldbeobtainedafter3monthsoftherapy.Iftheradiogra

30、phsdonotshowevidenceofhealing,thepossibilityofpooradherencetotreatment,malabsorption,orofotherformsofricketsshouldbeconsidered.第71页/共92页72Prevention1.Breastfeeding2.Ensureadequateexposuretosunlight3.VitaminDsupplementationisrecommended400IU/dPrematureneonate、multiplefetals、lowbirthweightinfants：1wee

31、kafterbirth800IU/d*3mon400IU/dFulltermneonate：2weeksafterbirth400IU/d*2yearsold4.VitDforpregnantwomen第72页/共92页73TheAmericanAcademyofpediatrics(AAP)allbreastfedinfantandbottlefedinfants(receivinglessthan500mlformuladaily)shouldreceive200IUvitaminDdaily.第73页/共92页74 Tetany of vitamin D deficiency 维生素D缺

32、乏性手足搐搦症第74页/共92页75Generalconsideration第75页/共92页76General consideration Tetany of vitamin D deficiency occurs most frequently under the ages of 6 month.TetanyisraretodayowingtowidespreadprophylacticuseofvitaminD.Tetanyisoccasionallyassociatedwithceliacdisease,suchasdiarrhea.第76页/共92页77 DefinitionVitD

33、deficiencycauseshypocalcemiadirectlyincreasesperipheralneuromuscularirritability,whichcancauseconvulsionorlocalmuscletic 第77页/共92页78Pathology第78页/共92页79结合钙-Constructingofbone99%游离钙-Accommadationincellexcretion,signalentrainment,stimulatednervemuscleconvection,bloodclotting,andbloodoxygentrafficBiolo

34、gic function of Ca第79页/共92页80Serum CaAccommodation of Ca l1,25（OH）2D3、PTH、CTPHPlasmaproteinconcentrationPlasmaphosphorusconcentrationThe compose of Serum Ca(1%)ionicCa（47%）:physioactivityproteinbindingCa（47%）:unactivitycompound（6%）:bindingwithorganicacidandinorganicacid,unactivity第80页/共92页81hypocalc

35、emiaDeficiencyofVitDLesscalciumisabsorbedfromtheintestinehypocalcemiaParathormone（PTH）100NoserumCaP*MobilizationofcalciumandphosphorusfromthebonekidneyDecreasephreabsorptionMaintaintheserumcalciumlevelricketstetanyAfailureinmineralizationofgrowingboneorosteoidtissueMechanism第81页/共92页82Clinicalmanife

36、stations第82页/共92页83Clinical manifestationsLatent tetanyNo symptomsPositive signs Chvostek Trousseau Peroneal reflexPeroneal reflexserum calcium lever is less than 1.75-1.88mmol/LManifest tetanyLaryngospasmCarpopedalspasmConvulsionsSerumcalciumleverisisoftenwellunder1.75mmol/L第83页/共92页84Figure:Carpop

37、edal spasm第84页/共92页85diagnosis第85页/共92页86diagnosisdiagnosis History-age,season,historyofVDdificiency,symptomsandsignsofricketsClinicalmanifestations-convulsionwithoutfever,repeatoccurs,consciouseafterseizureswithoutCNSsignsTotalCa-1.75-1.88mmol/L,ionicCa1.0mmol/L。第86页/共92页87Differential diagnosisCon

38、vulsion without feverhypomagnesemia HypoparathyroidismHypoglycemiaInfantile spasmsotherscentralneversysteminfectiousacutelaryngitis第87页/共92页88Case 1病例分析：假设同学们在急诊室值班，一个6个月的婴儿，因为抽搐急诊入院，请问你如何进行抽搐查因的分析？如何进行诊治。（5分钟分组讨论，5分钟陈述观点）第88页/共92页89Treatment第89页/共92页90treatment Emergency treatment Basic life support(establish airway,oxygen inhalation and mechanical ventilation)Anticonvulsant and control laryngospasmCalcium supplementationOthers:Administration of VitD第90页/共92页 第91页/共92页感谢您的观看。第92页/共92页