Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies

Hepatology Communications
Laura BullRichard J Thompson

Abstract

Progressive familial intrahepatic cholestasis (PFIC) with normal circulating gamma-glutamyl transpeptidase levels can result from mutations in the ATP8B1 gene (encoding familial intrahepatic cholestasis 1 [FIC1] deficiency) or the ABCB11 gene (bile salt export protein [BSEP] deficiency). We investigated the outcomes of partial external biliary diversion, ileal exclusion, and liver transplantation in these two conditions. We conducted a retrospective multicenter study of 42 patients with FIC1 deficiency (FIC1 patients) and 60 patients with BSEP deficiency (BSEP patients) who had undergone one or more surgical procedures (57 diversions, 6 exclusions, and 57 transplants). For surgeries performed prior to transplantation, BSEP patients were divided into two groups, BSEP-common (bearing common missense mutations D482G or E297G, with likely residual function) and BSEP-other. We evaluated clinical and biochemical outcomes in these patients. Overall, diversion improved biochemical parameters, pruritus, and growth, with substantial variation in individual response. BSEP-common or FIC1 patients survived longer after diversion without developing cirrhosis, being listed for or undergoing liver transplantation, or dying, compared to BSEP-ot...Continue Reading

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Citations

Jan 22, 2019·Journal of Pediatric Gastroenterology and Nutrition·Dorothee Krebs-SchmittEnke Grabhorn
Jun 12, 2019·World Journal of Hepatology·Sarah Af HenkelJames E Squires
May 21, 2020·Journal of Pediatric Gastroenterology and Nutrition·Henkjan J VerkadeErik Lindström
Jan 2, 2021·International Journal of Molecular Sciences·Piter J BosmaRonald Pj Oude-Elferink
Jun 5, 2021·Orphanet Journal of Rare Diseases·Tracey Jones-HughesLouise Crathorne
Jun 29, 2021·Clinics and Research in Hepatology and Gastroenterology·Ulrich BaumannParesh N Soni
Mar 6, 2021·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Daan B E van WesselUNKNOWN Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium
Jul 25, 2020·European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [et Al] = Zeitschrift Für Kinderchirurgie·Kristin BjørnlandJan F Svensson
Sep 4, 2021·European Journal of Medical Genetics·Antonia Felzen, Henkjan J Verkade

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Methods Mentioned

BETA
Assay
biopsy

Software Mentioned

Quickcalc
Statistical Analysis System
Graphpad
Graphpad Prism

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