兒科學(xué)教學(xué)課件18、infantile hepatitis syndrome上

1、czhao ruiqiu2014.05cdivide of gastroenterology and infectious diseases, childrens hospital, cqmuinfantile hepatitis syndrome a group of symptom complex which includes hepatocellular jaundice, pathologic physical sign of liver and abnormal liver function occurred in infancy.l unknown causesl complica

2、ted causesl （europe and america ） neonatal hepatitis cdivide of gastroenterology and infectious diseases, childrens hospital, cqmusimilar characteristics occurrence in infancyjaundiceabnormal liver functionnutritional disturbancehepatomegaly & splenomegalyhepatic architecture abnormality cdivide

3、 of gastroenterology and infectious diseases, childrens hospital, cqmuunconjugated hyperbilirubinemia conjugated hyperbilirubinemia cdivide of gastroenterology and infectious diseases, childrens hospital, cqmusimilar characteristics jaundiceabnormal liver functionnutritional disturbancehepatomegaly

4、& splenomegalyhepatic architecture abnormality occurrence in infancycdivide of gastroenterology and infectious diseases, childrens hospital, cqmuhepato-splenomegalycdivide of gastroenterology and infectious diseases, childrens hospital, cqmusimilar characteristics jaundiceabnormal liver function

5、nutritional disturbancehepatomegaly & splenomegalyhepatic architecture abnormality occurrence in infancycdivide of gastroenterology and infectious diseases, childrens hospital, cqmuserum bilirubin serum transaminase bile acids tp, albptliver function tests tb、dbalt，ast，-gt，akp cdivide of gastroe

6、nterology and infectious diseases, childrens hospital, cqmusimilar characteristics jaundicehepatomegaly & splenomegalyhepatic architecture abnormality nutritional disturbanceabnormal liver functionoccurrence in infancycdivide of gastroenterology and infectious diseases, childrens hospital, cqmu

7、患兒，男，患兒，男，2月月1010天，以天，以“發(fā)現(xiàn)皮膚黃染一月余發(fā)現(xiàn)皮膚黃染一月余”入院。自生后半月左右發(fā)現(xiàn)皮膚發(fā)黃，持續(xù)至今，無(wú)入院。自生后半月左右發(fā)現(xiàn)皮膚發(fā)黃，持續(xù)至今，無(wú)明顯進(jìn)行性加重，亦無(wú)減輕及波動(dòng)，大便色淡黃，小明顯進(jìn)行性加重，亦無(wú)減輕及波動(dòng)，大便色淡黃，小便色如廣柑水色。病程中無(wú)發(fā)熱、咳嗽，無(wú)腹瀉、腹便色如廣柑水色。病程中無(wú)發(fā)熱、咳嗽，無(wú)腹瀉、腹脹，無(wú)皮膚出血點(diǎn)，無(wú)嘔吐拒食。脹，無(wú)皮膚出血點(diǎn)，無(wú)嘔吐拒食。g2p1，產(chǎn)重，產(chǎn)重3.5kg。母乳及奶粉混合喂養(yǎng)至今。查體：母乳及奶粉混合喂養(yǎng)至今。查體：w 5kg 反應(yīng)可，反應(yīng)可，哭聲大。皮膚鞏膜中哭聲大。皮膚鞏膜中- -重度黃染，心肺聽(tīng)

8、診正常，腹重度黃染，心肺聽(tīng)診正常，腹部飽滿(mǎn)，肝肋下部飽滿(mǎn)，肝肋下3.5cm，劍下，劍下4.5cm, ,質(zhì)中邊鈍，脾臟質(zhì)中邊鈍，脾臟肋下肋下2cm，肛門(mén)及四肢正常。肛門(mén)及四肢正常。 院外肝功結(jié)果：院外肝功結(jié)果：tb 206.5mol/l db 123 mol/l alt 169u/l ast 233u/l. 舉舉 例例cdivide of gastroenterology and infectious diseases, childrens hospital, cqmumetabolic disturbance bronchitis or pneumonia congenital malform

9、ationnervous system damage eye diseases: cataract cdivide of gastroenterology and infectious diseases, childrens hospital, cqmuihsetiologybiliary atresia, cholangiectasis, caroli disease, etcmetabolic abnormalities of carbohydrate ,amino-acid, protein, lipid, bilirubin, bile acid etchepatic primary

10、infection & hepatic involvement of general infection infectionunclear etiology and classifications intrahepatic & extrahepatic duct abnormalotheretiologies disorders of metabolismcdivide of gastroenterology and infectious diseases, childrens hospital, cqmuihsetiologic classifi-cationbiliary

11、atresia, cholangiectasis, caroli disease, etcmetabolic abnormalities of carbohydrate ,amino-acid, protein, lipid, bilirubin, bile acid etchepatic primary infection & hepatic involvement of general infection infectionunclear etiology and classifications intrahepatic & extrahepatic duct abnorm

12、alotheretiologies disorders of metabolismcdivide of gastroenterology and infectious diseases, childrens hospital, cqmui. viral infection 1. 1. cytomegalovirus, cmv 2. 2. hav、hbv、hcv 3. 3. rubella virus，rv 4. 4. herps simplex virus, hsv 5. 5. epstein-bar virus, ebv 6. 6. enterovirus感染因素感染因素infective

13、factorscdivide of gastroenterology and infectious diseases, childrens hospital, cqmui. viral infectionii. bacterial infection 1. 1. pathogenic bacteria staphylococcus aureus, escherichia coli, salmonella, staphylococcus epidermidis, ,streptococcus etc 2. 2. common route of infection umbilical region

14、, respiratory tract, urinary tract etc感染因素感染因素infective factorscdivide of gastroenterology and infectious diseases, childrens hospital, cqmuomphalitis cdivide of gastroenterology and infectious diseases, childrens hospital, cqmu .viral infection .bacterial infection .other agents infection toxoplasm

15、, treponema pallidum, fungus, hiv感染因素感染因素infective factorscdivide of gastroenterology and infectious diseases, childrens hospital, cqmutoxoplasmatothersorubella virusrcytomegaloviruscherps simplex virushcongenital torch infectioncdivide of gastroenterology and infectious diseases, childrens hospital

16、, cqmucdivide of gastroenterology and infectious diseases, childrens hospital, cqmupathogen human cytomegalovirus （hcmv） double-stranded linear dna virus - - - - - cdivide of gastroenterology and infectious diseases, childrens hospital, cqmuepidemiologyinfectious sources infected peopleroutes of tra

17、nsmission 1. mother-to-child transmission (mtct) congenital infection （ infection confirmed in 2 weeks after birth） perinatal infections （ infection confirmed from 3 to 12 weeks after birth. ） postnatal infection （ infection confirmed after 12 weeks ） 2. horizontal transmission: close contact , iatr

18、ogenic transmission population susceptibility cdivide of gastroenterology and infectious diseases, childrens hospital, cqmu tissue tropism of hcmv target cell ：epithelial cell , , endothelial cell, , fibroblast different types of hcmv infection active infection latent infection cell transformation p

19、artial infection weaker virulence cdivide of gastroenterology and infectious diseases, childrens hospital, cqmucytomegalic inclusion owl eye sign pathologycdivide of gastroenterology and infectious diseases, childrens hospital, cqmu. . congenital infection 1. in early trimester of pregnancy： dead fe

20、tus, dead birth, or abortion 2. in mid or late trimester of pregnancy: （1）various malformations （2）multi-system involvement （3）more sequelae , poor prognosiscdivide of gastroenterology and infectious diseases, childrens hospital, cqmucongenital cytomegalovirus infection cdivide of gastroenterology a

21、nd infectious diseases, childrens hospital, cqmucdivide of gastroenterology and infectious diseases, childrens hospital, cqmu . .congenital infection .perinatal infections and postnatal infection hepatitis ： jaundice（db）、）、hepatosplenomegaly、 liver function damage (mild or moderate ) interstitial pn

22、eumonia ： prolonged courses , several months less sequelae hepatic cirrhosis can happenedcdivide of gastroenterology and infectious diseases, childrens hospital, cqmui. examination of virology 1. evidences of cmv active infection cmv-igm in serum positive the titer of cmv-igg increased over 4 times

23、cytomegalic inclusion is found in tissue cmv-mrna positive in body fluid or tissue cmv is isolated in body fluid or tissue.examinations of infectionscdivide of gastroenterology and infectious diseases, childrens hospital, cqmuexaminations of infectionsi. examination of virology. evidences of cmv act

24、ive infection 2.hbv (1) hbv: serologic marker of hbv (2) hbv-dna 3.other viruses anti-hav-igm; anti-hcv &hcv-rna ebv-igm; ruv-igm; hsv-igmcdivide of gastroenterology and infectious diseases, childrens hospital, cqmui. examination of virology.ii. bacteriologic tests blood culture , urine culture

25、iii. other pathogens tests atab treponema pallidum antigens/antibodies examinations of infectionscdivide of gastroenterology and infectious diseases, childrens hospital, cqmubiliary atresia, cholangiectasis, caroli disease, etcmetabolic abnormalities of carbohydrate ,amino-acid, protein, lipid, bili

26、rubin, bile acid etchepatic primary infection & hepatic involvement of general infection infectionunclear etiology and classifications intrahepatic & extrahepatic duct abnormalotheretiologies disorders of metabolismihsetiologycdivide of gastroenterology and infectious diseases, childrens hos

27、pital, cqmumalformations of the bile ducts 1. biliary atresia2. congenital cholangiectasis classification： intrahepatic & extrahepatic etiology：congenital infection congenital anomaly bile ducts 3.caroli disease4. alagille syndromecdivide of gastroenterology and infectious diseases, childrens ho

28、spital, cqmul similar clinical feature in abnormal bile duct relevance disease： pale stool，dark urine conjunctive hyperbilirubinemia increased akp, -gt levelcdivide of gastroenterology and infectious diseases, childrens hospital, cqmu1. biliary atresia2. congenital cholangiectasis classification： in

29、trahepatic & extrahepatic etiology：congenital infection congenital anomaly bile ducts 3.caroli disease4. alagille syndromemalformations of the bile ducts cdivide of gastroenterology and infectious diseases, childrens hospital, cqmucaroli diseasecdivide of gastroenterology and infectious diseases

30、, childrens hospital, cqmu1. biliary atresia2. congenital cholangiectasis classification： intrahepatic & extrahepatic etiology：congenital infection congenital anomaly bile ducts 3.caroli disease4. alagille syndromemalformations of the bile ducts cdivide of gastroenterology and infectious disease

31、s, childrens hospital, cqmualagille syndromecdivide of gastroenterology and infectious diseases, childrens hospital, cqmuexaminations of abnormal bile ducts l imaging investigations b mode ultrasound magnetic resonance cholangiopancreatography (mrcp) x-ray l radioisotope scanning (technetium-99 )l e

32、ndoscopic retrograde cholangiopancreatography ercp l liver biopsy cdivide of gastroenterology and infectious diseases, childrens hospital, cqmuradioisotope scanning cdivide of gastroenterology and infectious diseases, childrens hospital, cqmuexaminations of abnormal bile ducts l imaging investigatio

33、ns b mode ultrasound mrcp x-rayl radioisotope scanning (technetium-99 )l endoscopic retrograde cholangiopancreatography ercp l liver biopsy cdivide of gastroenterology and infectious diseases, childrens hospital, cqmuercpcdivide of gastroenterology and infectious diseases, childrens hospital, cqmuex

34、aminations of abnormal bile ducts l imaging investigations l radioisotope scanning (technetium-99 )l endoscopic retrograde cholangiopancreatography ercp l liver biopsy cdivide of gastroenterology and infectious diseases, childrens hospital, cqmubiliary obstruction alagille syndromecdivide of gastroe

35、nterology and infectious diseases, childrens hospital, cqmubiliary atresia, cholangiectasis, caroli disease, etcmetabolic abnormalities of carbohydrate ,amino-acid, protein, lipid, bilirubin, bile acid etchepatic primary infection & hepatic involvement of general infection disorders of metabolis

36、minfectionunclear etiology and classifications intrahepatic & extrahepatic duct abnormalotheretiologies ihsetiologycdivide of gastroenterology and infectious diseases, childrens hospital, cqmu1. disorders of carbohydrate metabolism eg：galactosemia : galactose-1-phosphate uridyltransferase fructo

37、se intolerance glycogenosis mucopolysaccharidosis 2. disorders of amino acid metabolism eg：tyrosinemia citrin deficiency （niccd） citrullinemia (type)3. disorders of lipid metabolism eg：niemann-pick disease gaucher，s diseasemetabolic disorderscdivide of gastroenterology and infectious diseases, child

38、rens hospital, cqmu4. disorders of bilirubin metabolism gilbert syndrome crigler-najjar syndrome rotor syndrome dubin johnson syndrome5. disorders of bile acid metabolism progressive familial intrahepatic cholestasis, pfic6. other disorders of metabolism alpha-1 antitrypsin deficiency wilson disease

39、 hemochromatosismetabolic disorderscdivide of gastroenterology and infectious diseases, childrens hospital, cqmuphenotypecurrent condition namegene defectinfantile low ggtcholestasispfic 1fic1-atp8b1infantile low ggtcholestasisbsep deficiency pfic 2abcb11infantile cholestasis high ggtmdr3 deficiency

40、 pfic 3abcb4progressive familial intrahepatic cholestasis, pfic cdivide of gastroenterology and infectious diseases, childrens hospital, cqmu4. disorders of bilirubin metabolism gilbert syndrome crigler-najjar syndrome rotor syndrome dubin johnson syndrome5. disorders of bile acid metabolism progres

41、sive familial intrahepatic cholestasis, pfic6. other disorders of metabolism alpha-1 antitrypsin deficiency wilson disease hemochromatosismetabolic disorderscdivide of gastroenterology and infectious diseases, childrens hospital, cqmul metabolism screening fasting blood glucose ,blood gas analysis ,

42、blood ammonia , blood lactate , blood lipid , afp, ceruloplasmin , serum protein electrophoresis l tandem mass spectrometry l liver biopsy light microscopy and electron microscopy l gene analysis examinations of metabolism cdivide of gastroenterology and infectious diseases, childrens hospital, cqmu

43、gsd-4hemochromatosisniemann-pick disease cdivide of gastroenterology and infectious diseases, childrens hospital, cqmul metabolism screening fasting blood glucose ,blood gas analysis ,blood ammonia , blood lactate , blood lipid , afp, ceruloplasmin , serum protein electrophoresis l tandem mass spectrometry l liver biopsy light microscopy and electron microscopy l gene analysis examinations of metabolism cdivide of gastroenterology and infectious diseases, child