Patient Report

Pediatrics International 2010 Aug; 52(4); e192-e195.

3β-hydroxy-Δ5-C27-steroid dehydrogenase/isomerase deficiency in a patient who underwent oral bile acid therapy for 10 years and delivered two healthy infants

Hiroshi Nittono,1 Hajime Takei,1 Atsushi Unno,1 Toshiaki Shimizu,2 Masakazu Kobayashi,3 Michio Koike,4 Tsuyoshi Murai,5 Takao Kurosawa,5 and Masahiko Thoma5

1Junshin Clinic Bile Acid Institute, 2Department of Pediatrics, Juntendo University School of Medicine, Tokyo, 3Kobayashi Children’s Clinic, 4Department of Pediatrics, Wakayama Medical University, Wakayama and 5Faculty of Pharmaceutical Sciences, Health Sciences University of Hokkaido, Hokkaido, Japan

A patient who had been followed up due to chronic liver injury of unknown cause since childhood was diagnosed as having an inborn error of bile acid metabolism (IEBAM), that is, 3β-hydroxy-Δ5-C27-steroid dehydrogenase/isomerase (3β-HSD) deficiency,1 as a result of an analysis of the urinary bile acid with the gas chromatography–mass spectrometry (GC-MS) method.2 As treatment, chenodeoxycholic acid (CDCA) and cholic acid (CA), which are primary bile acids, were orally administered for 10 years. After the oral bile acid therapy, the biochemical liver function values and serum alanine aminotransferase (ALT) and total bilirubin (T-Bil) levels were maintained at normal levels, while the 3β, 7α-dihydroxy- and 3β, 7α, 12α-trihydroxy-5-cholenoic acid levels significantly decreased. The patient gave birth to a healthy boy and a girl during the 10-year follow-up period. To date, there have been no other published reports of patients receiving long-term bile acid and delivering two healthy babies.