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ppt课件.pptVIP

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;;;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 levels and establish the possible etiologies of idiopathic neonatal hepatitis. BSEP gene deletion in a “transit” neonatal hepatitis ;病初曾有血清TB下降而GGT升高达400U/L 黄疸加重而GGT下降至50U/L左右，TB和ALT持续波动，而GGT始终不高，最终于1岁前死于肝功能衰竭 ;结 论;THANK YOU