遗传性代谢相关性黄疸的基因诊断和治疗

Genetic diagnosis and treatment of inherited metabolic-related jaundice

黄疸是婴幼儿期常见的临床表现,病因繁多,诊断困难。而遗传因素是代谢相关性黄疸的常见病因之一。本文将重点介绍先天性胆红素代谢、先天性胆汁酸合成障碍及其他代谢紊乱相关黄疸性疾病的基因诊断和治疗。

Jaundice is a common clinical manifestation in infants.There are different kinds of pathogeny and it′s difficult to diagnose.Genetic factor is one of the common pathogenesis in metabolism-related jaundice.This review focused on three categories of jaundice:bilirubin metabolism-related jaundice,bile acid synthesis defect and other metabolic disorders associated with jaundice,and concentrated on the genetic diagnosis and therapy of hereditary metabolism-related jaundice in these diseases.