Congenital dyserythropoietic anemia and drug-induced liver injury present as bland cholestasis: A case report.

ABSTRACT: Anemias and drug-induced liver injury(DILI) are separate disorders, which are difficult to diagnose. The clinical effects of DILI vary among individuals. However, the outcome determinants remain to be fully established. To the best of our knowledge, the role of anemia in DILI has yet to be reported. The present study reported on the case of one Chinese patient (male; age, 21 years) who experienced obvious drug-induced cholestasis. Of note, the hepatocyte injury was minimal compared with that in previously reported cases treated with the same drug. In addition, the patient suffered from mild hemolytic anemia with no obvious cause. A genetic pedigree analysis revealed compound heterozygous mutations in the congenital anemia-associated gene codanin 1, including the novel rare p.R1067H mutatio

SUBMITTER: Han Y 

PROVIDER: S-EPMC7967802 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature