Biliary atresia combined Wilson disease identified by whole exome sequencing in Vietnamese patient with severe liver failure.

ABSTRACT:

Rationale

Hepatobiliary diseases such as biliary atresia (BA), Wilson disease, and progressive familial intrahepatic cholestasis are common causes of morbidity and mortality in young children. Affected patients progress rapidly to end-stage cirrhosis and require liver transplantation or die. Mutations in many genes have been identified to play an important role in the pathogenesis of hepatobiliary diseases.

Patient concerns and diagnosis

In this study, we identified mutations in an 8-year-old girl who had severe liver failure. The patient was first diagnosed with BA at 2.5 months of age and has undergone Kasai surgery to connect the umbilical cord and jejunum. After that, the patient suddenly had unusual developments with symptoms of jaundice, acute liver failure with hemoly

SUBMITTER: Hoa NPA 

PROVIDER: S-EPMC8757933 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature