https://pubmed.ncbi.nlm.nih.gov/38034430/ Cholestasis

JPGN Rep. 2023 Oct 9;4(4):e372.
doi: 10.1097/PG9.0000000000000372. eCollection 2023 Nov.

Healthy Patients With AKR1D1 Mutation Not Requiring Primary Bile Acid Therapy: A Case Series

Akihiko Kimura 1 2, Jun Mori 3, Anh-Hoa Nguyen Pham 4, Kim-Oanh Bui Thi 4, Hajime Takei 2, Tsuyoshi Murai 5, Hisamitsu Hayashi 6, Hiroshi Nittono 2

Abstract
Δ4-3-Oxosteroid 5β-reductase (AKR1D1) deficiency typically causes severe cholestasis occurs in newborns, leading to death unless patients are treated with primary bile acids. However, we encountered an AKR1D1 deficiency patient treated with only ursodeoxycholic acid who had cholestasis until about 1 year of age but then grew up healthy without further treatment. We also have been following other healthy patients with AKR1D1 mutation who have never developed cholestasis and have not been treated. However, reports are few, involving 3 patients. To better understand and clinically manage a diverse group of patients with AKR1D1 mutation who do not develop potentially fatal cholestasis in the neonatal period, ongoing accumulation and study of informative cases is needed.
Keywords: AKR1D1; disorders of bile acid synthesis; primary bile acid therapy; Δ4-3-oxosteroid 5β-reductase deficiency.