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1、RicketsofVitaminDDeficiencyPeng Jing Xiangya Hospital,CSU2010.11BackgroundWhat happened to these children?First thorough account of ricketsFrancis Glisson(1650)Francis Glisson(1650)Martins e Silva J.Acta Reumatol Port,2007.32:205.Martins e Silva J.Acta Reumatol Port,2007.32:205.MellanbyMellanby Edwa
2、rd(1918)Edward(1918)Isolation of the Isolation of the antiricketicantiricketic factor from liver oil factor from liver oil MellanbyMellanby E.E.Br Med J,Br Med J,1924 1924,24:895,24:895 AdolfAdolf windauswindaus(1922)(1922)Synthetically prepare vitamin D3“no more campaign on rickets”In the 1970sVeen
3、aVeena BahlBahl.Nutrition&Food Science,1993,81:2.Nutrition&Food Science,1993,81:2 Rowe PM.LancetRowe PM.Lancet,20012001,357:1100357:1100In the 2000sIn the 2000s“I think this is a I think this is a major major unrecognized epidemicunrecognized epidemic in in the United States.It affects the United St
4、ates.It affects children and adults of all children and adults of all 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 o
5、verlooked.”.”The Lancet:“re-emergence of rickets”“re-emergence of rickets”Rickets of vitamin D deficiency 营养性维生素营养性维生素D D缺乏性佝偻病缺乏性佝偻病To be familiar with its pathology,diagnosis and differential diagnosisTeaching aimsTo master its etiology,clinical manifestations,treatment and prevention of RicketsDe
6、finition What is Rickets?Mineralization:矿化矿化Osteoid:骨样组织骨样组织Osteomalacia:骨软化骨软化症症RicketsisthetermsignifyingafailureinmineralizationofgrowingboneorosteoidtissueduetodeficiencyofvitaminDThe source and conversion of Vitamin DResource of VitDCalciferol(vitD2)Cholecalciferol(vitD3)7-dehydrocholesterol in
7、 skin296310nmMaterno-fetus Dietary and therapeutic sourceActivation of VitDVitD2 VitD325(OH)D31,25(OH)2D3DBPHydrooxylated in the renalHydrooxylated in the LiverCirculating formBiologically active form Function of 1,25(OH)2D3Facilitation of intestinal Facilitation of intestinal absorption of calcium
8、and absorption of calcium and phosphorusphosphorusReabsorption of phosphorus in the kidneysDirect effect on mineral metabolism of boneAccommodation of cell proliferation and immune systemReceptors（intestins,renal,bone）Function of 1,25(OH)2D QuizTell us the function of 1,25(OH)2D3.What is the biologi
9、cally active form of vitamin D?25(OH)D3 What is the major circulating form of vitamin D?1,25(OH)2D3Antiricketic function：intestines,renal,boneOthers：anticancer，immunomodulationEtiologyetiologyDiseaseInadequate intakeRapid growthInadequate exposure in sunlightVitD deficiency during perinatal periodch
10、ildrenVitD deficiency during perinatal period Whether all pregnancies should be given vitamin D need for a large placebo-controlled double-blind trial.(Cochrane collaboration)etiologyDiseasesInadequate intakeRapid growth Inadequate exposure in sunlightVitD deficiency during perinatal period children
11、SeasonsRegionsSkin colourslatitudesInadequate exposure in sunlight Spring AutumCity Countryside Black Asian WhiteHigher LoweretiologyDiseaseInadequate intakeRapid growthInadequate exposure in sunlightVitD deficiency during perinatal periodchildrenRapid growth Multiple SinglePremature Full termetiolo
12、gyDiseasesInadequate intakeRapid growthInadequate exposure in sunlightVitD deficiency during perinatal periodchildrenSupply calcium without VitDDelay auxiliary foods(辅食辅食)Milk：25 IU/1LYolk：98IU/1gCalcium deficiency =Vitamin D deficiencyInadequate intake of Vit DetiologyDiseasesInadequate intakeRapid
13、 growthInadequate exposure in sunlightVitD deficiency during perinatal period childrenAntiseizuretherapy抗癫痫治疗抗癫痫治疗phenobarbitalCeliacdiseaseCysticdisease胆道疾病胆道疾病胃肠道疾病胃肠道疾病苯巴比妥苯巴比妥Disease(chronic gastrointestinal diseases/hepatic disease/renal disease)Quiz What is the major cause of rickets?Inadequat
14、e exposure in sunlightPathology骨的进一步生长骨的进一步生长软骨储备区软骨储备区软骨增生区软骨增生区软骨钙化区软骨钙化区成骨区成骨区q 骺软骨不断生长并被骨组织替换。骺软骨不断生长并被骨组织替换。CalcifyCa*P 40钙盐沉着钙盐沉着 35旧骨脱钙旧骨脱钙钙磷的作用钙磷的作用DecreasedserumcalciumlevelDeficiencyofVitDLesscalciumisabsorbedfromtheintestineHypocalcemicParathormone（PTH）serumCaPMobilizationofcalciumandphos
15、phorusfromthebonekidneyDecreasephreabsorptionMaintaintheserumcalciumlevelricketstetanyAfailureinmineralizationofgrowingboneorosteoidtissueMechanism 甲状旁腺素甲状旁腺素（PTH）341.osteoporosis occurs（骨膜增厚，骨质疏松软化骨膜增厚，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临时钙化带失去正常形态或消
16、失）3.Osteoid tissue stacking（骨样组织堆积骨样组织堆积）4.Epiphyseal ribbon broader（干骺端变宽干骺端变宽）35Parathyriodglands甲状旁腺甲状旁腺Tetany ofVitamin D deficiencyRickets ofvitamin D deficiencyVitaminDdeficincy Quiz Calcium deficiency =Vitamin D deficiency?Quiz Clinical manifestationsCould you help us,doctor?Case report 8-mon
17、th-old female childExclusively 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(枕秃枕秃),cephalus quadratus（方颅）（方颅）,without primary teeth erupion.Clinical diagnosis?R
18、ickets of vitamin D deficiency SummaryEarly stage Active rickets Healing ricketsSequela stage 3yOsseouschanges+hypotonic+neuralsyndrome早期早期激期激期恢复期恢复期 后遗症期后遗症期1.Neurologicsymptoms（sweatingandirritation）2.2.Noosseouschanges（骨骼无异常骨骼无异常）3.craniotabes(颅骨软化颅骨软化)3.Serumcalciumandphosphorus,25(OH)VitDPTHAKP
19、4.XrayisnormalEarly stage(6m)42Question 1 Why？Neurologic Neurologic symptomssymptomsSweatingIrritation IrritationBone painnerve muscle excitability increasedhypocalcemiavitD deficiencyMechanism 低钙血症低钙血症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、骨痛激惹、骨痛激惹、骨痛Question 2 Why is that?Questio
20、n 2 Why is that?pulvinar bald（枕秃枕秃）night sweating（盗汗）（盗汗）1.Neurologicsymptoms（sweatingandirritation）2.2.Noosseouschanges（骨骼无异常骨骼无异常）3.craniotabes(颅骨软化颅骨软化)3.Serumcalciumandphosphorus,25(OH)VitDPTHAKP4.XrayisnormalEarly stage(1yr）Bowlegs (“O”型腿型腿)Knock-knees (“X”型腿型腿)hypotony Crookback （驼背）（驼背）Frog b
21、elly(蛙腹蛙腹)2010.11Question 4:How to confirm the diagnosisBiochemistryBiochemistryLabsCalcium: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
22、(20ng/mL)*X ray changesBiochemistryBiochemistryCalcium and phosphorus AKP PTH25(OH)VitD Alteration Alteration of bonesof bonesRadiographyRadiographyNeurologic Neurologic symptomssymptomsCraniotabes Pigeon breast Bowlegs and knock-kneesCephalus quadratusRachiticOsteoporosis Temporary calcification li
23、ne extinction Osteoid tissue stacking Epiphyseal ribbon broaderSummarySweatingIrritation Healing rickets(6m-2y)1.Clinicalmanifestationsbecomeinvisible2.Serumbiochemistryexamsarebecomingnormal.3.Xraysarebecomingnormal58Sequela stage(3y)1.Noclinicalmanifestations2.NormalserumCa,PandAKP3.NormalXray4.Sk
24、eletaldeformities59 Quiz What are major clinical features of Rickets of VitD deficiency?分期分期 初期初期 激激期期 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 (+)(+
25、)好转好转 好转好转 正常正常 正常正常 佝偻病各期临床表现佝偻病各期临床表现61DiagnosislaboratoryRadiographic 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 examinationclinicalD
26、iagnosisSerum 25-(OH)D level is decreased(20ng/mL)*Serum 25-(OH)D level is decreased(20ng/mL)*Differential diagnosis64Differential diagnosisRickets of anti VitD(抗抗维生素维生素D佝偻病佝偻病)1.X-linkedhypophosphatemicrickets(低血磷性抗维生素低血磷性抗维生素D佝偻病佝偻病)2.renaltubuleacidosis(远端肾小管性酸中毒远端肾小管性酸中毒)3.vitaminD-dependentrick
27、ets(VitD依赖性佝偻病依赖性佝偻病)4.renalrickets(肾性佝偻病肾性佝偻病)5.liverrickets(肝性佝偻病肝性佝偻病)stronglys/orecentAsphyxiaMucopolysaccharidosis(粘粘多糖病多糖病)achondroplasia(软骨发育不全软骨发育不全)Hydrocephalus(脑积水脑积水)s/orecentAsphyxia65 粘多糖病粘多糖病鉴别诊断鉴别诊断66软骨发育不良软骨发育不良鉴别诊断鉴别诊断67脑积水脑积水68TreatmentTreatmentobjective:Controldiseaseandpreventbo
28、nedeformity.1.Naturalandartificial sunlight exposure2.2.OraladministrationofVitD3.VitD22000-4000IU/d2-4w400IU/d4.calcifediol(2g/kg.d)calcitriol(0.050.2g/kg.d)3.IntramuscleinjectionofVitD2/3VitD30-60万万IU1-3times4.Calcium0.5-1.0g/d,30to75mg/kg.d(hungrybone)71MonitoringAftertreatmentinitiation,allpatie
29、ntswillrequiredcarefulmonitoring.1.Serumca,pandAKP,urinaryca/creatinineratioandkidneyfunctionshouldbemeasure4weeksafterthestartoftherapy.Thesetestsshouldberepeatedafter3months.2.Ariseinthelevelofphosphorusfollowedbycalcium3.Reappearanceofurinarycalciumexcretion2.Radiograhsshouldbeobtainedafter3month
30、softherapy.Iftheradiographsdonotshowevidenceofhealing,thepossibilityofpooradherencetotreatment,malabsorption,orofotherformsofricketsshouldbeconsidered.72Prevention1.Breastfeeding2.Ensureadequateexposuretosunlight3.VitaminDsupplementationisrecommended400IU/dPrematureneonate、multiplefetals、lowbirthwei
31、ghtinfants：1weekafterbirth800IU/d*3mon400IU/dFulltermneonate：2weeksafterbirth400IU/d*2yearsold4.VitDforpregnantwomen73The American Academy of pediatrics(AAP)allbreastfedinfantandbottlefedinfants(receivinglessthan500mlformuladaily)shouldreceive200IUvitaminDdaily.74 Tetany of vitamin D deficiency 维生素维
32、生素D D缺乏性手足搐搦症缺乏性手足搐搦症75General consideration 76General considerationTetanyofvitaminDdeficiencyoccursmostfrequentlyundertheagesof6month.TetanyisraretodayowingtowidespreadprophylacticuseofvitaminD.Tetanyisoccasionallyassociatedwithceliacdisease,suchasdiarrhea.77 DefinitionVitDdeficiencycauseshypocalce
33、miadirectlyincreasesperipheralneuromuscularirritability,whichcancauseconvulsionorlocalmuscletic 78Pathology 79结合钙结合钙-Constructingofbone99%游离钙游离钙-Accommadationincellexcretion,signalentrainment,stimulatednervemuscleconvection,bloodclotting,andbloodoxygentrafficBiologic function of Ca80Serum CaAccommod
34、ation of Ca l1,25（OH）2D3、PTH、CTPHPlasmaproteinconcentrationPlasmaphosphorusconcentrationThe compose of Serum Ca(1%)ionicCa（47%）:physioactivityproteinbindingCa（47%）:unactivitycompound（6%）:bindingwithorganicacidandinorganicacid,unactivity81hypocalcemiaDeficiencyofVitDLesscalciumisabsorbedfromtheintest
35、inehypocalcemiaParathormone（PTH）100NoserumCaP*MobilizationofcalciumandphosphorusfromthebonekidneyDecreasephreabsorptionMaintaintheserumcalciumlevelricketstetanyAfailureinmineralizationofgrowingboneorosteoidtissueMechanism 82Clinical manifestations83Clinical manifestationsLatent tetanyNosymptomsPosit
36、ivesignsChvostekTrousseauPeronealreflexserumcalciumleverislessthan1.75-1.88mmol/LManifest tetanyLaryngospasmCarpopedalspasmConvulsionsSerumcalciumleverisisoftenwellunder1.75mmol/L84Figure:Carpopedal spasm85diagnosis 86diagnosisdiagnosisHistory-age,season,historyofVDdificiency,symptomsandsignsofricke
37、tsClinicalmanifestations-convulsionwithoutfever,repeatoccurs,consciouseafterseizureswithoutCNSsignsTotalCa-1.75-1.88mmol/L,ionicCa1.0mmol/L。87Differential diagnosisConvulsion without feverhypomagnesemiaHypoparathyroidismHypoglycemiaInfantilespasmsotherscentralneversysteminfectiousacutelaryngitis88Case 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）89Treatment 90treatmentEmergencytreatment Basiclifesupport(establishairway,oxygeninhalationandmechanicalventilation)AnticonvulsantandcontrollaryngospasmCalciumsupplementationOthers:AdministrationofVitD91