《儿科学教学课件》18、infantilehepatitis syndrome（上）

1、c Divide of gastroenterology and infectious diseases, Childrens hospital, CQMU Infantile 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 causes l Complicated causes l （E

2、urope and America ） neonatal hepatitis c Divide of gastroenterology and infectious diseases, Childrens hospital, CQMU similar characteristics occurrence in infancy jaundice abnormal liver function nutritional disturbance hepatomegaly anti-HCV Ruv-IgM; HSV-IgM c Divide of gastroenterology and infecti

3、ous diseases, Childrens hospital, CQMU Examination of virology. Bacteriologic tests blood culture , urine culture Other pathogens tests ATAB Treponema pallidum antigens/antibodies Examinations of infections c Divide of gastroenterology and infectious diseases, Childrens hospital, CQMU Biliary atresi

4、a, Cholangiectasis, Caroli disease, etc metabolic abnormalities of carbohydrate ,amino-acid, protein, lipid, bilirubin, bile acid etc Hepatic primary infection & hepatic involvement of general infection infection Unclear etiology and classifications Intrahepatic & extrahepatic duct abnormal Other et

5、iologies Disorders of metabolism IHS etiology c Divide of gastroenterology and infectious diseases, Childrens hospital, CQMU Malformations of the bile ducts 1. Biliary atresia 2. Congenital cholangiectasis classification： Intrahepatic & extrahepatic etiology：congenital infection congenital anomaly b

6、ile ducts 3.Caroli disease 4. Alagille syndrome c Divide of gastroenterology and infectious diseases, Childrens hospital, CQMU l similar clinical feature in abnormal bile duct relevance disease： pale stool，dark urine Conjunctive hyperbilirubinemia increased AKP, -GT level c Divide of gastroenterolog

7、y and infectious diseases, Childrens hospital, CQMU 1. Biliary atresia 2. Congenital cholangiectasis classification： Intrahepatic & extrahepatic etiology：congenital infection congenital anomaly bile ducts 3.Caroli disease 4. Alagille syndrome Malformations of the bile ducts c Divide of gastroenterol

8、ogy and infectious diseases, Childrens hospital, CQMU Caroli disease c Divide of gastroenterology and infectious diseases, Childrens hospital, CQMU 1. Biliary atresia 2. Congenital cholangiectasis classification： Intrahepatic & extrahepatic etiology：congenital infection congenital anomaly bile ducts

9、 3.Caroli disease 4. Alagille syndrome Malformations of the bile ducts c Divide of gastroenterology and infectious diseases, Childrens hospital, CQMU Alagille syndrome c Divide of gastroenterology and infectious diseases, Childrens hospital, CQMU Examinations of abnormal bile ducts l Imaging investi

10、gations B mode ultrasound Magnetic Resonance Cholangiopancreatography (MRCP) X-Ray l Radioisotope scanning (Technetium-99 ) l Endoscopic Retrograde Cholangiopancreatography ERCP l Liver biopsy c Divide of gastroenterology and infectious diseases, Childrens hospital, CQMU radioisotope scanning c Divi

11、de of gastroenterology and infectious diseases, Childrens hospital, CQMU Examinations of abnormal bile ducts l Imaging investigations B mode ultrasound MRCP X-Ray l Radioisotope scanning (Technetium-99 ) l Endoscopic Retrograde Cholangiopancreatography ERCP l Liver biopsy c Divide of gastroenterolog

12、y and infectious diseases, Childrens hospital, CQMU ERCP c Divide of gastroenterology and infectious diseases, Childrens hospital, CQMU Examinations of abnormal bile ducts l Imaging investigations l Radioisotope scanning (Technetium-99 ) l Endoscopic Retrograde Cholangiopancreatography ERCP l Liver

13、biopsy c Divide of gastroenterology and infectious diseases, Childrens hospital, CQMU Biliary obstruction Alagille syndrome c Divide of gastroenterology and infectious diseases, Childrens hospital, CQMU Biliary atresia, Cholangiectasis, Caroli disease, etc metabolic abnormalities of carbohydrate ,am

14、ino-acid, protein, lipid, bilirubin, bile acid etc Hepatic primary infection & hepatic involvement of general infection Disorders of metabolism infection Unclear etiology and classifications Intrahepatic & extrahepatic duct abnormal Other etiologies IHS etiology c Divide of gastroenterology and infe

15、ctious diseases, Childrens hospital, CQMU 1. Disorders of carbohydrate metabolism eg：Galactosemia : galactose-1-phosphate uridyltransferase Fructose intolerance Glycogenosis Mucopolysaccharidosis 2. Disorders of amino acid metabolism eg：Tyrosinemia Citrin deficiency （NICCD） Citrullinemia (type) 3. D

16、isorders of lipid metabolism eg：Niemann-Pick disease Gaucher，s disease Metabolic disorders c Divide of gastroenterology and infectious diseases, Childrens hospital, CQMU 4. Disorders of bilirubin metabolism Gilbert syndrome Crigler-Najjar syndrome Rotor syndrome Dubin Johnson syndrome 5. Disorders o

17、f bile acid metabolism Progressive Familial Intrahepatic Cholestasis, PFIC 6. Other disorders of metabolism Alpha-1 antitrypsin deficiency Wilson disease Hemochromatosis Metabolic disorders c Divide of gastroenterology and infectious diseases, Childrens hospital, CQMU PhenotypeCurrent condition name

18、 Gene defect Infantile low GGT Cholestasis PFIC 1FIC1-ATP8B1 Infantile low GGT Cholestasis BSEP deficiency PFIC 2 ABCB11 Infantile Cholestasis high GGT MDR3 deficiency PFIC 3 ABCB4 progressive familial intrahepatic cholestasis, PFIC c Divide of gastroenterology and infectious diseases, Childrens hos

19、pital, CQMU 4. Disorders of bilirubin metabolism Gilbert syndrome Crigler-Najjar syndrome Rotor syndrome Dubin Johnson syndrome 5. Disorders of bile acid metabolism Progressive Familial Intrahepatic Cholestasis, PFIC 6. Other disorders of metabolism Alpha-1 antitrypsin deficiency Wilson disease Hemo

20、chromatosis Metabolic disorders c Divide of gastroenterology and infectious diseases, Childrens hospital, CQMU l Metabolism screening fasting blood glucose ,blood gas analysis ,blood ammonia , blood lactate , blood lipid , AFP, ceruloplasmin , serum protein electrophoresis l Tandem mass spectrometry

21、 l Liver biopsy light microscopy and electron microscopy l Gene analysis Examinations of metabolism c Divide of gastroenterology and infectious diseases, Childrens hospital, CQMU GSD-4Hemochromatosis Niemann-Pick Disease c Divide of gastroenterology and infectious diseases, Childrens hospital, CQMU

22、l 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 c Divide of

23、 gastroenterology and infectious diseases, Childrens hospital, CQMU c Divide of gastroenterology and infectious diseases, Childrens hospital, CQMU c Divide of gastroenterology and infectious diseases, Childrens hospital, CQMU c Divide of gastroenterology and infectious diseases, Childrens hospital,

24、CQMU IHS etiology Biliary atresia, Cholangiectasis, Caroli disease, etc metabolic abnormalities of carbohydrate ,amino-acid, protein, lipid, bilirubin, bile acid etc Hepatic primary infection & hepatic involvement of general infection Disorders of metabolism infection Unclear etiology and classifications Intrahepatic & extrahepatic duct abnormal Other etiologies c Divide of gastroenterology and infecti