Clinical features and diagnosis of four common types of congenital hyperbilirubinemia
10.3969/j.issn.1001-5256.2019.08.005
- VernacularTitle:4种常见先天性高胆红素血症的临床特征及诊断思路
- Author:
Jie BAI
1
;
Sujun ZHENG
;
Zhongping DUAN
Author Information
1. Intractable Hepatic Diseases and Artificial Liver Treatment & Training Center, Beijing YouAn Hospital, Capital Medical University, Beijing 100069, China
- Publication Type:Research Article
- Keywords:
hyperbilirubinemia, hereditary;
disease attributes;
diagnosis
- From:
Journal of Clinical Hepatology
2019;35(8):1680-1683
- CountryChina
- Language:Chinese
-
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.
