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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. Martins e Silva J. Acta Reumatol Port,2007. 32:205.32:205.MellanbyMellan
2、by Edward(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 ric
3、kets”In the 1970sVeenaVeena 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 t
4、he United States. It affects the United States. 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
5、in children have have long been overlookedlong been overlooked.” .” 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,cli
6、nical manifestations, treatment and prevention of RicketsDefinition 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 VitDCal
7、ciferol(vitD2)Cholecalciferol(vitD3) 7-dehydrocholesterol in 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
8、intestinal Facilitation of intestinal absorption of calcium absorption of calcium and phosphorusand phosphorusReabsorption 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
9、)2D QuizTell us the function of 1,25(OH)2D3.What is the biologically 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 growthIna
10、dequate exposure in sunlightVitD deficiency during perinatal periodchildrenVitD 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 Inadequat
11、e exposure in sunlightVitD deficiency during perinatal period childrenSeasonsRegionsSkin colourslatitudesInadequate exposure in sunlight Spring AutumCity Countryside Black Asian WhiteHigher LoweretiologyDiseaseInadequate intakeRapid growthInadequate exposure in sunlightVitD deficiency during perinat
12、al periodchildrenRapid growth Multiple SinglePremature Full termetiologyDiseasesInadequate 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 def
13、iciencyInadequate intake of Vit DetiologyDiseasesInadequate intakeRapid 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/ hepati
14、c disease / renal disease) Quiz What is the major cause of rickets ? Inadequate 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DecreasedserumcalciumlevelDeficiencyofVitDLesscalciumisabsorbedfro
15、mtheintestineHypocalcemicParathormone（PTH）serumCaPMobilizationofcalciumandphosphorusfromthebonekidneyDecreasephreabsorptionMaintaintheserumcalciumlevelricketstetanyAfailureinmineralizationofgrowingboneorosteoidtissueMechanism 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
16、 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
17、D deficiency? Quiz Clinical manifestationsCould you help us, doctor? Case report 8-month-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 ba
18、ld(枕秃枕秃), cephalus quadratus（方颅）（方颅）, without primary teeth erupion. Clinical diagnosis ?Rickets 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.Nooss
19、eouschanges（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( 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
20、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?Question 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.Xrayisn
21、ormalEarly stage( 1yr）Bowlegs (“O” 型腿型腿)Knock-knees (“X”型腿型腿)hypotony Crookback （驼背）（驼背）Frog belly (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 /
22、L) Golden standard:Golden standard:Serum 25-(OH)DSerum 25-(OH)D3 3 level is decreased(20ng/mL)* level is decreased(20ng/mL)* X ray changesBiochemistryBiochemistryCalcium and phosphorus AKP PTH25(OH)VitD Alteration Alteration of bonesof bonesRadiographyRadiographyNeurologic Neurologic symptomssymptom
23、sCraniotabes Pigeon breast Bowlegs and knock-kneesCephalus quadratusRachiticOsteoporosis Temporary calcification line extinction Osteoid tissue stacking Epiphyseal ribbon broaderSummarySweatingIrritation Healing rickets( 6m-2y )1.Clinicalmanifestationsbecomeinvisible2.Serumbiochemistryexamsarebecomi
24、ngnormal.3.Xraysarebecomingnormal58Sequela stage( 3y )1.Noclinicalmanifestations2.NormalserumCa,PandAKP3.NormalXray4.Skeletaldeformities59 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
25、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 。Prem
26、aturityMedical history (gestational age, diet, degree of sunlight exposure, family history, disease) Physical examinationclinicalDiagnosisSerum 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
27、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-dependentrickets(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)Hydrocephalu
28、s(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:Controldiseaseandpreventbonedeformity.1.Naturalandartificial sunlight exposure2.2.OraladministrationofVitD3.VitD22000-4000IU/d2-4w400IU/d4.calcifediol(2g/kg.d)calcitriol(0.050.2g/kg.d)3.Intramusc
29、leinjectionofVitD2/3VitD30-60万万IU1-3times4.Calcium0.5-1.0g/d,30to75mg/kg.d(hungrybone)71MonitoringAftertreatmentinitiation,allpatientswillrequiredcarefulmonitoring.1.Serumca,pandAKP,urinaryca/creatinineratioandkidneyfunctionshouldbemeasure4weeksafterthestartoftherapy.Thesetestsshouldberepeatedafter3
30、months.2.Ariseinthelevelofphosphorusfollowedbycalcium3.Reappearanceofurinarycalciumexcretion2.Radiograhsshouldbeobtainedafter3monthsoftherapy.Iftheradiographsdonotshowevidenceofhealing,thepossibilityofpooradherencetotreatment,malabsorption,orofotherformsofricketsshouldbeconsidered.72Prevention1.Brea
31、stfeeding2.Ensureadequateexposuretosunlight3.VitaminDsupplementationisrecommended400IU/dPrematureneonate、multiplefetals、lowbirthweightinfants：1weekafterbirth800IU/d*3mon400IU/dFulltermneonate：2weeksafterbirth400IU/d*2yearsold4.VitDforpregnantwomen73The American Academy of pediatrics(AAP)allbreastfed
32、infantandbottlefedinfants(receivinglessthan500mlformuladaily)shouldreceive200IUvitaminDdaily.74 Tetany of vitamin D deficiency 维生素维生素D D缺乏性手足搐搦症缺乏性手足搐搦症75General consideration 76General considerationTetanyofvitaminDdeficiencyoccursmostfrequentlyundertheagesof6month.Tetanyisraretodayowingtowidespread
33、prophylacticuseofvitaminD.Tetanyisoccasionallyassociatedwithceliacdisease,suchasdiarrhea.77 DefinitionVitDdeficiencycauseshypocalcemiadirectlyincreasesperipheralneuromuscularirritability,whichcancauseconvulsionorlocalmuscletic 78Pathology 79结合钙结合钙-Constructingofbone99%游离钙游离钙-Accommadationincellexcre
34、tion,signalentrainment,stimulatednervemuscleconvection,bloodclotting,andbloodoxygentrafficBiologic function of Ca80Serum CaAccommodation of Ca l1,25（OH）2D3、PTH、CTPHPlasmaproteinconcentrationPlasmaphosphorusconcentrationThe compose of Serum Ca (1%)ionicCa（47%）:physioactivityproteinbindingCa（47%）:unac
35、tivitycompound（6%）:bindingwithorganicacidandinorganicacid,unactivity81hypocalcemiaDeficiencyofVitDLesscalciumisabsorbedfromtheintestinehypocalcemiaParathormone（PTH）100NoserumCaP*MobilizationofcalciumandphosphorusfromthebonekidneyDecreasephreabsorptionMaintaintheserumcalciumlevelricketstetanyAfailure
36、inmineralizationofgrowingboneorosteoidtissueMechanism 82Clinical manifestations83Clinical manifestationsLatent tetanyNosymptomsPositivesignsChvostekTrousseauPeronealreflexserumcalciumleverislessthan1.75-1.88mmol/LManifest tetanyLaryngospasmCarpopedalspasmConvulsionsSerumcalciumleverisisoftenwellunde
37、r1.75mmol/L84Figure: Carpopedal spasm85diagnosis 86diagnosisdiagnosisHistory-age,season,historyofVDdificiency,symptomsandsignsofricketsClinicalmanifestations-convulsionwithoutfever,repeatoccurs,consciouseafterseizureswithoutCNSsignsTotalCa-1.75-1.88mmol/L,ionicCa1.0mmol/L。87Differential diagnosisCon
38、vulsion 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
