Clinical features and diagnosis of four common types of congenital hyperbilirubinemia / 临床肝胆病杂志

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.