-佝偻病手足抽搐症

,单击此处编辑母版文本样式,第二级,第三级,第四级,第五级,单击此处编辑母版标题样式,Click to Edit Master Title Style,Click to edit Master text styles,Second level,Third level,Fourth level,Fifth level,单击此处编辑母版文本样式,第二级,第三级,第四级,第五级,单击此处编辑母版标题样式,单击此处编辑母版标题样式,单击此处编辑母版文本样式,第二级,第三级,第四级,第五级,#,单击此处编辑母版标题样式,单击此处编辑母版文本样式,第二级,第三级,第四级,第五级,#,单击此处编辑母版标题样式,单击此处编辑母版文本样式,第二级,第三级,第四级,第五级,#,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,Rickets is the term signifying a,failure in mineralization,of,growing,bone or osteoid tissue due to,deficiency of vitamin D,The source and conversion of Vitamin D,Resource of VitD,Calciferol,(vitD,2,),Cholecalciferol,(vitD,3,),7-dehydrocholesterol in skin,296310nm,Materno-fetus,Dietary and therapeutic source,Activation of VitD,VitD,2,VitD,3,25(OH)D,3,1,25(OH),2,D,3,DBP,Hydrooxylated,in the,renal,Hydrooxylated,in the,Liver,Circulating form,Biologically active form,Function of 1,25(OH),2,D3,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),2,D,Quiz,Tell us the function of 1,25(OH),2,D,3,.,What is the biologically active form of vitamin D?,25(OH) D3,What is the major circulating form of vitamin D ?,1,25(OH),2,D,3,Anti,ricketic,function,：,intestines, renal, bone,Others,：,anticancer,，,immunomodulation,Etiology,etiology,Disease,Inadequate intake,Rapid growth,Inadequate exposure in sunlight,VitD deficiency during perinatal period,children,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,children,Seasons,Regions,Skin colours,latitudes,Inadequate exposure in sunlight,Spring Autum,City Countryside,Black Asian White,Higher Lower,etiology,Disease,Inadequate intake,Rapid growth,Inadequate exposure in sunlight,VitD deficiency during perinatal period,children,Rapid growth,Multiple Single,Premature Full term,etiology,Diseases,Inadequate intake,Rapid growth,Inadequate exposure in sunlight,VitD deficiency during perinatal period,children,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,children,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,软骨储备区,软骨增生区,软骨钙化区,成骨区,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,Tetany of,Vitamin D deficiency,Rickets of,vitamin D deficiency,Vitamin D deficincy,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,),c,ephalus quadratus,（方颅）, without primary teeth erupion.,Clinical diagnosis,?,Rickets of vitamin D deficiency,Summary,Early stage,Active rickets,Healing rickets,Sequela stage, 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,？,Neurologic symptoms,Sweating,Irritation,Irritation,Bone pain,nerve muscle excitability increased,hypocalcemia,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?,pulvinar bald,（,枕秃,）,night sweating,（盗汗）,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( 1yr,）,Bowlegs (“O”,型腿,),Knock-knees (“X”,型腿,),hypotony,Crookback,（驼背）,F,rog belly (蛙腹),2010. 11,Question 4: How to confirm the diagnosis,Biochemistry,Labs,Calcium,:,2 (2.25,2.75mmol/L ),Phosphorus,:,1 (1.3,2.3mmol/L),CaP:,35 (35,45mg/dL),PTH,:,10,（,1,10pmol/L,）,AKP:,240,（,50,240U /L),Golden standard:Serum 25-(OH)D,3,level is decreased(20ng/mL)*,X ray changes,Biochemistry,Calcium and phosphorus,AKP,PTH,25(OH)VitD,Alteration of bones,Radiography,Neurologic symptoms,Craniotabes,Pigeon breast,Bowlegs and knock-knees,Cephalus quadratus,Rachitic,Osteoporosis,Temporary calcification line extinction,Osteoid tissue stacking,Epiphyseal ribbon broader,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,分期,初期,激期,恢复期,后遗症期,神经肌肉,改变,夜啼,多汗,激惹,运动机能迟缓,肌张力低下,智力发育低下,好转,无,骨骼改变,无,骨骼软化,骨样组织堆积,好转,畸形,生化,检查,X,线,PTH,Ca P,AKP,25(OH)D,(-),PTH,Ca P,AKP,25(OH)D,(+),好转,好转,正常,正常,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,sunlight exposure,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(2,g/kg.d),calcitriol (0.05 0.2,g/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 mon,400 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,）,2,D,3,、,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 or,osteoid tissue,Mechanism,83,Clinical manifestations,84,Clinical manifestations,Latent tetany,No symptoms,Positive signs Chvostek, Trousseau,Peroneal reflex,serum calcium lever is less than 1.75-1.88mmol/L,Manifest tetany,Laryngospasm,Carpopedal spasm,Convulsions,Serum calcium lever is is often well under 1.75mmol/L,85,Figure: Carpopedal spasm,86,diagnosis,87,diagnosis,History,- age, season, history of VD dificiency,symptoms and signs of rickets,Clinical manifestations,- convulsion without fever,repeat occurs, consciouse after seizures,without CNS signs,Total Ca,- 1.75-1.88mmol/L, ionic Ca1.0mmol/L,。,88,Differential diagnosis,Convulsion without fever,hypomagnesemia,Hypoparathyroidism,Hypoglycemia,Infantile spasms,others,central never system infectious,acute laryngitis,89,Case 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）,90,Treatment,91,treatment,Emergency treatment,Basic life support (establish airway,oxygen inhalation and mechanical ventilation),Anticonvulsant and control laryngospasm,Calcium supplementation,Others :,Administration of VitD,