Progressive familial intrahepatic cholestasis — farnesoid X receptor deficiency due to <i>NR1H4</i> mutation: A case report
Piotr Czubkowski, Richard J. Thompson, Irena Jankowska, A. S. Knisely, Milton J. Finegold, Pamela Parsons, Joanna Cielecka–Kuszyk, Sandra Strautnieks, Joanna Pawłowska, Laura N. Bull
Abstract
BACKGROUND: . CASE SUMMARY: , and both parents were shown to be heterozygous carriers. Absence of FXR and of bile salt export pump expression was confirmed by immunostaining of explanted liver. CONCLUSION: Severe cholestasis with persistently high alpha-fetoprotein and modest elevation of serum bile acid levels may suggest FXR deficiency. Some patients with FXR deficiency may not develop allograft steatosis and may respond well to liver transplantation.
Topics & Concepts
Farnesoid X receptorCholestasisMedicineProgressive familial intrahepatic cholestasisLiver transplantationInternal medicineNeonatal cholestasisSteatosisBile acidGastroenterologyBile Salt Export PumpEndocrinologyTransplantationBiliary atresiaNuclear receptorBiologyTransporterBiochemistryGeneTranscription factorDrug Transport and Resistance MechanismsPediatric Hepatobiliary Diseases and TreatmentsPharmacological Effects and Toxicity Studies