基因测序诊断遗传性高胆红素血症的研究进展

Research Progress in Diagnosis of Hereditary Hyperbilirubinemia by Gene Sequencing

遗传性高胆红素血症是一类常染色体遗传病,多以黄疸为主要表现,但临床及相关化验室检查缺乏特异性,故疾病诊断非常困难。随着基因检测技术的飞速发展,该类疾病患者的确诊率逐年增加,新的致病性突变也不断被发现,使得人们对遗传性高胆红素血症的认识更加全面,也在一定程度上避免了不必要的治疗。本文就遗传性高直接胆红素血症及遗传性高间接胆红素血症概述及各型相关基因突变及治疗进展进行综述,以期为临床治疗该疾病提供参考。

Hereditary hyperbilirubinemia is a type of autosomal inherited disease,mostly with jaundice as the main manifestation,but clinical and related laboratory examinations lack specificity,so the diagnosis of the disease is very difficult.With the rapid development of genetic testing technology,the diagnosis rate of patients with this type of disease is increasing year by year.New pathogenic mutations have also been discovered continuously,making people's understanding of hereditary hyperbilirubinemia more comprehensive and avoiding unnecessary treatment to a certain extent.This article reviews the overview of hereditary hyperdirect bilirubinemia and hereditary hyperindirect bilirubinemia,as well as various types of related gene mutations and treatment progress,in order to provide references for clinical treatment of the disease.