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4种常见先天性高胆红素血症的临床特征及诊断思路
Clinical features and diagnosis of four common types of congenital hyperbilirubinemia
文章发布日期:2019年07月05日  来源:  作者:白洁,郑素军,段钟平  点击次数:667次  下载次数:298次

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【摘要】:先天性高胆红素血症是临床上常见的遗传代谢性肝病,但由于其表现多样且不典型、临床重视程度不足,故易导致漏诊、误诊、延迟诊断。对Gilbert综合征、Crigler-Najjar综合征、Dubin-Johnson综合征和Rotor综合征等4种常见先天性高胆红素血症的临床特点、常见致病基因及其突变位点、诊断思路进行了总结,以供临床医师参考。
【Abstract】:Congenital hyperbilirubinemia is an inherited metabolic liver disease commonly seen in clinical practice, and various atypical manifestations of this disease and a low degree of emphasis may lead to missed diagnosis, misdiagnosis, and delayed diagnosis. This article summarizes the clinical features, common pathogenic genes and their mutation sites, and diagnosis of four common types of congenital hyperbilirubinemia, i.e., Gilbert syndrome, Crigler-Najjar syndrome, Dubin-Johnson syndrome, and Rotor syndrome, in order to provide a reference for clinicians.
【关键字】:高胆红素血症, 遗传性; 疾病特征; 诊断
【Key words】:hyperbilirubinemia, hereditary; disease attributes; diagnosis
【引证本文】:BAI J, ZHENG SJ, DUAN ZP. Clinical features and diagnosis of four common types of congenital hyperbilirubinemia[J]. J Clin Hepatol, 2019, 35(8): 1680-1683. (in Chinese)
白洁, 郑素军, 段钟平. 4种常见先天性高胆红素血症的临床特征及诊断思路[J]. 临床肝胆病杂志, 2019, 35(8): 1680-1683.

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