Delayed intrahepatic cholestasis induced by anabolic steroids in a patient with haploinsufficiency of the pregnane X receptor (PXR/NR1I2)
R Liebe, M Krawczyk, J Raszeja-Wyszomirska, B Kruk, R Preis, J Trottier, O Barbier, P Milkiewicz, F Lammert · Zeitschrift für Gastroenterologie · 2015 · Heft 12
Bibliografische Angaben
Zusammenfassung
Case description: We describe a 32 year old male patient who developed cholestatic liver injury two weeks after a 2-month course of anabolic steroids. Methods and results: Next generation sequencing of a panel of 24 cholestasis-related genes revealed a heterozygous 2 basepair deletion in exon 1 of the pregnane X receptor (PCR/NR1I2) gene. Analysis of serum bile salts revealed marked imbalances, strongly resembling the changes observed in patients with biliary obstruction (BO). PXR haploinsufficiency coupled to AAS severely reduced the secretion of bile, causing massive accumulation of taurine- and glycine-conjug…
