豆丁精选胆盐代谢及转运和肝内胆汁淤积课件.ppt

胆盐代谢及转运和肝内胆汁淤积 ——分子医学和临床的相互促进 ;“特发性”新生儿肝炎;King’s病例入选标准;Wang JS, Eur J Pediatr, 2006, in press;病例排除标准;Basic information;The basic and biochemistry characteristics with endpoint without endpoint Birth weight (g) 3353.33?94.93 2410.35?89.64* Age of jaundice noticed 29.50?8.59 13.49?1.28* Biochemistry at first presentation TB (mmol/l) 183.33?28.14 159.64?9.03 DB (mmol/l) 132.17?18.81 119.17?8.29 AST (U/L) 376.33?113.92 196.80?19.77 GGT (U/L) 45.83?8.21 165.82?14.30* Peak biochemistry at the first three months of follow up TB (mmol/l) 264?74.06 167.28?8.54 AST (U/L) 569.57?180.4 238.22?24.23* GGT (U/L) 58.71?7.43 311.71?20.68*;PFIC;ekyy入选标准; 结果;进行性家族性肝内郁胆（PFIC）;;FIC1 deficiency;FIC1 deficiency (续);Low GGT in cholestasis;BSEP deficiency;Case 2 GA, A167I ;Case 3 CAG TAGExon 18 C2230T Q702Stop ; Case 5 Intron 22 (+3) Exon 7 T A 562 GT G188W;Case 5;Case 7;Low GGT in cholestasis;Bile acid synthetic defect;Bile acid synthetic defect -PFIC 4;对临床的意义;对临床的意义;对临床的意义;“Transit”neonatal hepatitis;根据入院时GGT分组，组织学表现有区别;;Wang JS, Eur J Pediatr, 2006, in press;GGT levels rise as bilirubin AST levels fall. There is a wide variation in time intervals to peak and resolution of disease. This patient presented on day 10 and disease resolved by day 151.;Biochemistry dynamic profile of patient presenting early;Children with idiopathic neonatal hepatitis have more severe disease if their presenting GGT levels are ≤ 100 IU/L However, the outcome appears to be good if the GGT becomes raised at a later point of disease Further research is required to elucidate the cause of low GGT level