Published online Sep 21, 2018. doi: 10.3748/wjg.v24.i35.4086
Peer-review started: June 7, 2018
First decision: June 20, 2018
Revised: July 17, 2018
Accepted: August 1, 2018
Article in press: August 1, 2018
Published online: September 21, 2018
A 2 mo old male infant presented with hyperbilirubinemia and coagulopathy, but normal bile acid and γ-glutamyltransferase.
Infant cholestatic liver disease, diagnosed by elevated direct bilirubin and alanine aminotransferase.
Virus hepatitis, congenital bile duct dysplasia, genetic metabolic diseases, and autoimmune hepatitis.
Hyperbilirubinemia, coagulopathy, and impaired liver function.
The patient was initially given ursodeoxycholic acid (UDCA) treatment. We changed UDCA to chenodeoxycholic acid (CDCA) (80 mg/d) after one week of ineffective UCDA treatment. After two months of oral CDCA treatment, urine bile acid analyses indicated that the CDCA dose of 80 mg/d was insufficient to complete the suppression of atypical bile acids. We thus increased the dose of CDCA to 100 mg/d, which proved adequate to down-regulate hepatic bile acid synthesis based on the second urine bile acid analyses.
More than 20 cases of primary 5β-reductase deficiency have been reported, and over ten variant mutations in the aldo-ketoreductase family 1 member D1 (AKR1D1) gene are attributed to a defect in 5β-reductase.
Aldo-ketoreductase family 1 member D1 (AKR1D1) encodes Δ4-3-oxosteroid 5β-reductase; its deficiency results in a lack of primary bile acids and increased synthesis of 3-oxo-Δ4 bile and allo-bile acids.
Gene analysis is essential for the accurate diagnosis of primary 3-oxo-Δ4-steroid 5β-reductase deficiency. Early diagnosis and adequate supplementation with CDCA are vital for the amelioration of clinical symptoms.