佝僂病手足抽搐癥PPT課件

1、Background第1頁(yè)/共92頁(yè)What happened to these children ?第2頁(yè)/共92頁(yè)第3頁(yè)/共92頁(yè)Mellanby Edward(1918)第4頁(yè)/共92頁(yè)第5頁(yè)/共92頁(yè)“ no more campaign on rickets”第6頁(yè)/共92頁(yè)第7頁(yè)/共92頁(yè) Rickets of vitamin D deficiency 營(yíng)養(yǎng)性維生素D缺乏性佝僂病第8頁(yè)/共92頁(yè)Teaching aims第9頁(yè)/共92頁(yè)Definition第10頁(yè)/共92頁(yè) What is Rickets?Mineralization:礦化 Osteoid:骨樣組織 Osteomal

2、acia:骨軟化癥 Rickets is the term signifying a failure in mineralization of growing bone or osteoid tissue due to deficiency of vitamin D第11頁(yè)/共92頁(yè)The source and conversion of Vitamin D第12頁(yè)/共92頁(yè)Resource of VitD Calciferol(vitD2)Cholecalciferol(vitD3) 7-dehydrocholesterol in skin296310nmMaterno-fetus Diet

3、ary and therapeutic source 第13頁(yè)/共92頁(yè)Activation of VitDVitD2 VitD325(OH)D31,25(OH)2D3DBPHydrooxylated in the renalHydrooxylated in the LiverCirculating formBiologically active form第14頁(yè)/共92頁(yè)Function of 1,25(OH)2D3Reabsorption of phosphorus in the kidneysDirect effect on mineral metabolism of boneAccom

4、modation of cell proliferation and immune systemReceptors（intestins, renal, bone）第15頁(yè)/共92頁(yè)Function of 1,25(OH)2D 第16頁(yè)/共92頁(yè) 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 fu

5、nction：intestines, renal, boneOthers：anticancer，immunomodulation第17頁(yè)/共92頁(yè)Etiology第18頁(yè)/共92頁(yè)etiology Disease Inadequate intake Rapid growth Inadequate exposure in sunlightVitD deficiency during perinatal period children第19頁(yè)/共92頁(yè)VitD deficiency during perinatal period Whether all pregnancies should be

6、given vitamin D need for a large placebo-controlled double-blind trial. (Cochrane collaboration)第20頁(yè)/共92頁(yè)etiology Diseases Inadequate intake Rapid growth Inadequate exposure in sunlightVitD deficiency during perinatal period children第21頁(yè)/共92頁(yè)SeasonsRegionsSkin colourslatitudesInadequate exposure in

7、sunlight Spring AutumCity Countryside Black Asian WhiteHigher Lower第22頁(yè)/共92頁(yè)etiology Disease Inadequate intake Rapid growth Inadequate exposure in sunlightVitD deficiency during perinatal period children第23頁(yè)/共92頁(yè)Rapid growth Multiple SinglePremature Full term第24頁(yè)/共92頁(yè)etiology Diseases Inadequate int

8、ake Rapid growth Inadequate exposure in sunlightVitD deficiency during perinatal period children第25頁(yè)/共92頁(yè)Supply calcium without VitDDelay auxiliary foods (輔食)Milk：25 IU/1LYolk：98IU/1gCalcium deficiency =Vitamin D deficiencyInadequate intake of Vit D第26頁(yè)/共92頁(yè)etiology Diseases Inadequate intake Rapid

9、growth Inadequate exposure in sunlightVitD deficiency during perinatal period children第27頁(yè)/共92頁(yè)Antiseizure therapy抗癲癇治療phenobarbitalCeliac diseaseCystic disease膽道疾病胃腸道疾病苯巴比妥Disease (chronic gastrointestinal diseases/ hepatic disease / renal disease)第28頁(yè)/共92頁(yè) Quiz What is the major cause of rickets ?

10、 Inadequate exposure in sunlight第29頁(yè)/共92頁(yè)P(yáng)athology第30頁(yè)/共92頁(yè)骨的進(jìn)一步生長(zhǎng)軟骨儲(chǔ)備區(qū)軟骨增生區(qū)軟骨鈣化區(qū)成骨區(qū)q 骺軟骨不斷生長(zhǎng)并被骨組織替換。第31頁(yè)/共92頁(yè)CalcifyCa*P 40鈣鹽沉著 35舊骨脫鈣鈣磷的作用第32頁(yè)/共92頁(yè)33Decreased serumcalcium levelDeficiency of VitDLess calcium is absorbed from the intestineHypocalcemicParathormone（PTH）serumCa PMobilization of calciu

11、m and phosphorus from the bonekidney Decrease ph reabsorptionMaintain the serum calcium levelricketstetanyA failure in mineralization of growing bone or osteoid tissueMechanism 甲狀旁腺素（PTH）第33頁(yè)/共92頁(yè)341. osteoporosis occurs（骨膜增厚，骨質(zhì)疏松軟化）2. temporary calcification line lost normal shape or extinction （臨時(shí)

12、鈣化帶失去正常形態(tài)或消失）3. Osteoid tissue stacking（骨樣組織堆積）4. Epiphyseal ribbon broader （干骺端變寬）第34頁(yè)/共92頁(yè)P(yáng)arathyriod glands甲狀旁腺Tetany ofVitamin D deficiencyRickets ofvitamin D deficiencyVitamin D deficincy Quiz 第35頁(yè)/共92頁(yè) Calcium deficiency = Vitamin D deficiency? Quiz 第36頁(yè)/共92頁(yè)Clinical manifestations第37頁(yè)/共92頁(yè)第38

13、頁(yè)/共92頁(yè) 8-month-old female child Exclusively breast-fed without vitamin supplement The mother did not receive any vitamins or calcium Presented with irritation and night sweating for 4 months Physical examination showed pulvinar bald(枕禿), cephalus quadratus（方顱）, without primary teeth erupion. Clinica

14、l diagnosis ?Rickets of vitamin D deficiency 第39頁(yè)/共92頁(yè)SummaryEarly stage Active rickets Healing ricketsSequela stage 3y Osseous changes + hypotonic + neural syndrome早期激期恢復(fù)期后遺癥期第40頁(yè)/共92頁(yè)411. Neurologic symptoms （sweating and irritation） 2. No osseous changes（骨骼無(wú)異常） craniotabes (顱骨軟化)3. Serum calcium

15、and phosphorus , 25(OH)VitD PTH AKP 4. X ray is normalEarly stage( 6m )第41頁(yè)/共92頁(yè)Question 1 Why？ Sweating Irritation 第42頁(yè)/共92頁(yè)IrritationBone painnerve muscle excitability increasedhypocalcemiavitD deficiencyMechanism 第43頁(yè)/共92頁(yè)Question 2 Why is that?pulvinar bald（枕禿）night sweating（盜汗）第44頁(yè)/共92頁(yè)451. Neu

16、rologic symptoms （sweating and irritation） 2. No osseous changes（骨骼無(wú)異常） craniotabes (顱骨軟化)3. Serum calcium and phosphorus , 25(OH)VitD PTH AKP 4. X ray is normalEarly stage( 1yr）Bowlegs (“O” 型腿)Knock-knees (“X”型腿)第51頁(yè)/共92頁(yè)hypotony Crookback （駝背）Frog belly (蛙腹) 第52頁(yè)/共92頁(yè)2010. 11第53頁(yè)/共92頁(yè)LabsCalcium :

17、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) 第54頁(yè)/共92頁(yè) X ray changes第55頁(yè)/共92頁(yè)Calcium and phosphorus AKP PTH25(OH)VitD Craniotabes Pigeon breast Bowlegs and knock-kneesCephalus quadratusRachiticOsteoporosis Temporary calcification lin

18、e extinction Osteoid tissue stacking Epiphyseal ribbon broaderSummary Sweating Irritation 第56頁(yè)/共92頁(yè)57Healing rickets( 6m-2y )1. Clinical manifestations become invisible2. Serum biochemistry exams are becoming normal. 3. X rays are becoming normal 第57頁(yè)/共92頁(yè)58Sequela stage( 3y )1. No clinical manifest

19、ations2. Normal serum Ca, P and AKP3. Normal X ray4. Skeletal deformities 第58頁(yè)/共92頁(yè) Quiz What are major clinical features of Rickets of VitD deficiency? 第59頁(yè)/共92頁(yè)60 分期分期 初期初期 激期激期 恢復(fù)期恢復(fù)期 后遺癥期后遺癥期神經(jīng)神經(jīng)肌肉肌肉改變改變 夜啼夜啼 多汗多汗 激惹激惹 運(yùn)動(dòng)機(jī)能遲緩運(yùn)動(dòng)機(jī)能遲緩 肌張力低下肌張力低下 智力發(fā)育低下智力發(fā)育低下 好轉(zhuǎn)好轉(zhuǎn) 無(wú)無(wú)骨骼骨骼改變改變 無(wú)無(wú) 骨骼軟化骨骼軟化 骨樣組織堆積骨樣組織堆積

20、 好轉(zhuǎn)好轉(zhuǎn) 畸形畸形生化生化檢查檢查 X X線線 PTH Ca P AKP 25(OH)D(-)(-) PTH Ca P AKP 25(OH)D (+) (+) 好轉(zhuǎn)好轉(zhuǎn) 好轉(zhuǎn)好轉(zhuǎn) 正常正常 正常正常 佝僂病各期臨床表現(xiàn)第60頁(yè)/共92頁(yè)Diagnosis第61頁(yè)/共92頁(yè)laboratoryRadiographic examSerum levels of calcium and phosphorusElevated PTH and AKPUrinalysis, renal and liver function 。PrematurityMedical history (gestational

21、age, diet, degree of sunlight exposure, family history, disease) Physical examinationclinicalDiagnosisSerum 25-(OH)D level is decreased(20ng/mL)*第62頁(yè)/共92頁(yè)63Differential diagnosis第63頁(yè)/共92頁(yè)64Differential diagnosisRickets of anti VitD (抗維生素D佝僂病) 1. X-linked hypophosphatemic rickets(低血磷性抗維生素D佝僂病)2. rena

22、l tubule acidosis (遠(yuǎn)端腎小管性酸中毒)3. vitamin D-dependent rickets (VitD依賴性佝僂病)4. renal rickets (腎性佝僂病)5. liver rickets (肝性佝僂病)strongly s/o recent AsphyxiaMucopolysaccharidosis (粘多糖病)achondroplasia (軟骨發(fā)育不全)Hydrocephalus (腦積水) s/o recent Asphyxia第64頁(yè)/共92頁(yè)65 粘多糖病鑒別診斷第65頁(yè)/共92頁(yè)66軟骨發(fā)育不良鑒別診斷第66頁(yè)/共92頁(yè)67腦積水第67頁(yè)/共9

23、2頁(yè)Treatment第68頁(yè)/共92頁(yè) Treatment sunlight exposure Calcium第69頁(yè)/共92頁(yè)70objective: Control disease and prevent bone deformity.1. Natural and artificial sunlight exposure 2. Oral administration of VitDVitD2 2000-4000 IU/d 2-4w 400IU/dcalcifediol(2g/kg.d) calcitriol (0.05 0.2g/kg.d) 3. Intramuscle injectio

24、n of VitD2/3 VitD 30-60萬(wàn)IU 1-3 times4. Calcium 0.5-1.0g/d, 30 to 75 mg/kg.d (hungry bone)第70頁(yè)/共92頁(yè)71Monitoring After treatment initiation, all patients will required careful monitoring.1. Serum ca, p and AKP, urinary ca/creatinine ratio and kidney function should be measure 4 weeks after the start o

25、f therapy. These tests should be repeated after 3 months.A rise in the level of phosphorus followed by calciumReappearance of urinary calcium excretion 2. Radiograhs should be obtained after 3 months of therapy.If the radiographs do not show evidence of healing, the possibility of poor adherence to

26、treatment, malabsorption, or of other forms of rickets should be considered. 第71頁(yè)/共92頁(yè)72Prevention1. Breast feeding2. Ensure adequate exposure to sunlight3. Vitamin D supplementation is recommended 400IU/dPremature neonate、multiple fetals、low birth weight infants：1 week after birth 800IU/d*3 mon400

27、IU/dFull term neonate：2weeks after birth 400IU/d*2 years old4. VitD for pregnant women第72頁(yè)/共92頁(yè)73The American Academy of pediatrics(AAP) all breastfed infant and bottlefed infants (receiving less than 500ml formula daily) should receive 200 IU vitamin D daily.第73頁(yè)/共92頁(yè)74 Tetany of vitamin D deficien

28、cy 維生素D缺乏性手足搐搦癥第74頁(yè)/共92頁(yè)75General consideration 第75頁(yè)/共92頁(yè)76General consideration Tetany of vitamin D deficiency occurs most frequently under the ages of 6 month. Tetany is rare today owing to widespread prophylactic use of vitamin D. Tetany is occasionally associated with celiac disease, such as dia

29、rrhea. 第76頁(yè)/共92頁(yè)77 Definition VitD deficiency causes hypocalcemia directly increases peripheral neuromuscular irritability, which can cause convulsion or local muscle tic 第77頁(yè)/共92頁(yè)78Pathology 第78頁(yè)/共92頁(yè)79結(jié)合鈣-Constructing of bone 99% 游離鈣 -Accommadation in cell excretion, signal entrainment, stimulated

30、 nerve muscle convection, blood clotting, and blood oxygen trafficBiologic function of Ca第79頁(yè)/共92頁(yè)80Serum CaAccommodation of Ca l 1,25（OH）2D3、PTH、CT PH Plasma protein concentration Plasma phosphorus concentration The compose of Serum Ca (1%) ionic Ca （47%）: physioactivity protein binding Ca （47%）: u

31、nactivity compound （6%）: binding with organic acid and inorganic acid,unactivity第80頁(yè)/共92頁(yè)81hypocalcemiaDeficiency of VitDLess calcium is absorbed from the intestinehypocalcemiaParathormone（PTH）100NoserumCa P*Mobilization of calcium and phosphorus from the bonekidney Decrease ph reabsorptionMaintain the serum calcium levelricketstetanyA failure in mineralization of growing bone or osteoid tissueMechanism 第81頁(yè)/共92頁(yè)82Clinical manifestations第82頁(yè)/共92頁(yè)83Clinical manifestationsLatent tetany N