佝偻病手足抽搐症 ppt课件_1

,Rickets of Vitamin D Deficiency,Peng Jing Xiangya Hospital, CSU,2010. 11,Background,What happened to these children ?,First thorough account of rickets,Francis Glisson(1650),Martins e Silva J. Acta Reumatol Port,2007. 32:205.,Mellanby Edward(1918),Isolation of the antiricketic factor from liver oil,Mellanby E. Br Med J, 1924 , 24: 895,Adolf windaus (1922),Synthetically prepare vitamin D3,“ no more campaign on rickets”,In the 1970s,Veena Bahl. Nutrition & Food Science, 1993, 81 :2,Rowe PM. Lancet,2001,357:1100,In the 2000s,“I think this is a major unrecognized epidemic in the United States. It affects children and adults of all ages, all races, and both sexes. Its very significant. ” “Vitamin D deficiency symptoms in children have long been overlooked.”,The Lancet: “re-emergence of rickets”,Rickets of vitamin D deficiency 营养性维生素D缺乏性佝偻病,To be familiar with its pathology, diagnosis and differential diagnosis,Teaching aims,To master its etiology,clinical manifestations, treatment and prevention of Rickets,Definition,What is Rickets?,Mineralization:矿化 Osteoid:骨样组织 Osteomalacia:骨软化症,The source and conversion of Vitamin D,Resource of VitD,Calciferol (vitD2),Cholecalciferol (vitD3),7-dehydrocholesterol in skin,296310nm,Materno-fetus,Dietary and therapeutic source,Activation of VitD,VitD2 VitD3,25(OH)D3,1,25(OH)2D3,DBP,Hydrooxylated in the renal,Hydrooxylated in the Liver,Circulating form,Biologically active form,Function of 1,25(OH)2D3,Facilitation of intestinal absorption of calcium and phosphorus,Reabsorption of phosphorus in the kidneys,Direct effect on mineral metabolism of bone,Accommodation of cell proliferation and immune system,Receptors（intestins, renal, bone）,Function of 1,25(OH)2D,Quiz,Tell 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)2D3,Antiricketic function：intestines, renal, bone Others：anticancer，immunomodulation,Etiology,etiology,Disease,Inadequate intake,Rapid growth,Inadequate exposure in sunlight,VitD deficiency during perinatal period,VitD deficiency during perinatal period,Whether all pregnancies should be given vitamin D need for a large placebo-controlled double-blind trial. (Cochrane collaboration),etiology,Diseases,Inadequate intake,Rapid growth,Inadequate exposure in sunlight,VitD deficiency during perinatal period,Inadequate exposure in sunlight,etiology,Disease,Inadequate intake,Rapid growth,Inadequate exposure in sunlight,VitD deficiency during perinatal period,Rapid growth,etiology,Diseases,Inadequate intake,Rapid growth,Inadequate exposure in sunlight,VitD deficiency during perinatal period,Supply calcium without VitD,Delay auxiliary foods (辅食) Milk：25 IU/1L Yolk：98IU/1g,Calcium deficiency = Vitamin D deficiency,Inadequate intake of Vit D,etiology,Diseases,Inadequate intake,Rapid growth,Inadequate exposure in sunlight,VitD deficiency during perinatal period,Antiseizure therapy,抗癫痫治疗,phenobarbital,Celiac disease,Cystic disease,胆道疾病,胃肠道疾病,苯巴比妥,Disease (chronic gastrointestinal diseases/ hepatic disease / renal disease),Quiz,What is the major cause of rickets ?,Inadequate exposure in sunlight,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,Decreased serum calcium level,Deficiency of VitD Less calcium is absorbed from the intestine,Hypocalcemic,Parathormone （PTH）,serum Ca P,Mobilization of calcium and phosphorus from the bone,kidney Decrease ph reabsorption,Maintain the serum calcium level,rickets,tetany,A failure in mineralization of growing bone or osteoid tissue,Mechanism,甲状旁腺素 （PTH）,35,osteoporosis occurs（骨膜增厚，骨质疏松软化） temporary calcification line lost normal shape or extinction （临时钙化带失去正常形态或消失） Osteoid tissue stacking（骨样组织堆积） Epiphyseal ribbon broader （干骺端变宽）,Parathyriod glands 甲状旁腺,Quiz,Calcium deficiency = Vitamin D deficiency,?,Quiz,Clinical manifestations,Could you help us, doctor?,Case report,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(枕秃), cephalus quadratus（方颅）, without primary teeth erupion. Clinical diagnosis ?,Rickets of vitamin D deficiency,Summary,Early stage,Active rickets,Healing rickets,Sequela stage, 6m,6m-2y,6m-2y, 3y,Osseous changes + hypotonic + neural syndrome,早期,激期,恢复期,后遗症期,42,Neurologic symptoms （sweating and irritation） 2. No osseous changes（骨骼无异常） craniotabes (颅骨软化) 3. Serum calcium and phosphorus , 25(OH)VitD PTH AKP 4. X ray is normal,Early stage( 6m ),Question 1 Why？,Sweating Irritation,Irritation Bone pain,vitD deficiency,Mechanism,低钙血症,神经、肌肉兴奋性增高,激惹、骨痛,Question 2 Why is that?,46,Neurologic symptoms （sweating and irritation） 2. No osseous changes（骨骼无异常） craniotabes (颅骨软化) 3. Serum calcium and phosphorus , 25(OH)VitD PTH AKP 4. X ray is normal,Early stage( 6m ),Question 3: If in progress?,If not recognized and properly treated, vitamin D deficiency may cause pain, fractures, skeletal deformity, growth retardation, dental defects, delayed developmental milestones and, in severe cases, hypocalcemic tetany and seizures.,Alteration of bones,craniotabes pigeon breast bowlegs and knock-knees cephalus quadratus rachitic,48,Active rickets( 6m-2y ),Increasing neural symptoms Typical alteration of bone(s) 3. changes of muscle tone 4. Serum calcium and phosphorus AKP 25(OH)VitD PTH 5. X ray is abnormal,49,Prematurity craniotabes pigeon breast harrison groove “X”form leg、“O” form leg,rachitic rosary cephalus quadratus rachitic,Osteomalacia,Osteoid staking,alteration of bone,Skull (头颅,16moths),Thorax（胸部,612months）,Extremity（四肢,1yr）,hypotony,2010. 11,Question 4: How to confirm the diagnosis,Labs,Calcium :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: Serum 25-(OH)D3 level is decreased(20ng/mL)*,X ray changes,Calcium and phosphorus AKP PTH 25(OH)VitD,Alteration of bones,Summary,Sweating Irritation,58,Healing rickets( 6m-2y ),1. Clinical manifestations become invisible 2. Serum biochemistry exams are becoming normal. 3. X rays are becoming normal,59,Sequela stage( 3y ),1. No clinical manifestations 2. Normal serum Ca, P and AKP 3. Normal X ray 4. Skeletal deformities,Quiz,What are major clinical features of Rickets of VitD deficiency?,61,佝偻病各期临床表现,Diagnosis,laboratory,Radiographic exam Serum levels of calcium and phosphorus Elevated PTH and AKP Urinalysis, renal and liver function 。,Prematurity Medical history (gestational age, diet, degree of sunlight exposure, family history, disease) Physical examination,clinical,Diagnosis,Serum 25-(OH)D level is decreased(20ng/mL)*,64,Differential diagnosis,65,Differential diagnosis,Rickets of anti VitD (抗维生素D佝偻病) 1. X-linked hypophosphatemic rickets(低血磷性抗维生素D佝偻病) 2. renal tubule acidosis (远端肾小管性酸中毒) 3. vitamin D-dependent rickets (VitD依赖性佝偻病) 4. renal rickets (肾性佝偻病) 5. liver rickets (肝性佝偻病)strongly s/o recent Asphyxia,Mucopolysaccharidosis (粘多糖病) achondroplasia (软骨发育不全) Hydrocephalus (脑积水) s/o recent Asphyxia,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,vitamin D,Calcium,71,objective: Control disease and prevent bone deformity.,Natural and artificial sunlight exposure 2. Oral administration of VitD VitD2 2000-4000 IU/d 2-4w 400IU/d calcifediol(2g/kg.d) calcitriol (0.05 0.2g/kg.d) 3. Intramuscle injection of VitD2/3 VitD 30-60万IU 1-3 times 4. Calcium 0.5-1.0g/d, 30 to 75 mg/kg.d (hungry bone),72,Monitoring After treatment initiation, all patients will required careful monitoring.,Serum ca, p and AKP, urinary ca/creatinine ratio and kidney function should be measure 4 weeks after the start of therapy. These tests should be repeated after 3 months. A rise in the level of phosphorus followed by calcium Reappearance 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 treatment, malabsorption, or of other forms of rickets should be considered.,73,Prevention,Breast feeding Ensure adequate exposure to sunlight Vitamin D supplementation is recommended 400IU/d Premature neonate、multiple fetals、low birth weight infants：1 week after birth 800IU/d*3 mon400 IU/d Full term neonate：2weeks after birth 400IU/d*2 years old 4. VitD for pregnant women,74,The American Academy of pediatrics(AAP),all breastfed infant and bottlefed infants (receiving less than 500ml formula daily) should receive 200 IU vitamin D daily.,75,Tetany of vitamin D deficiency 维生素D缺乏性手足搐搦症,76,General consideration,77,General 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 diarrhea.,78,Definition,VitD deficiency causes hypocalcemia directly increases peripheral neuromuscular irritability, which can cause convulsion or local muscle tic,79,Pathology,80,结合钙-Constructing of bone 99% 游离钙 -Accommadation in cell excretion, signal entrainment, stimulated nerve muscle convection, blood clotting, and blood oxygen traffic,Biologic function of Ca,81,Serum Ca,Accommodation 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%）: unactivity compound （6%）: binding with organic acid and inorganic acid,unactivity,82,hypocalcemia,Deficiency of VitD Less calcium is absorbed from the intestine,hypocalcemia,Parathormone （PTH）,100,No,serum Ca P*,Mobilization of calcium and phosphorus from the bone,kidney Decrease ph reabsorption,Maintain the serum calcium level,rickets,tetany,A failure in mineralization of growing bone