{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T21:21:07Z","timestamp":1788384067678,"version":"build-2803163510"},"reference-count":39,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","license":[{"start":{"date-parts":[[2018,3,30]],"date-time":"2018-03-30T00:00:00Z","timestamp":1522368000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hepatology Communications"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:p>\n                    Progressive familial intrahepatic cholestasis (PFIC) with normal circulating gamma\u2010glutamyl transpeptidase levels can result from mutations in the\n                    <jats:italic toggle=\"yes\">ATP8B1<\/jats:italic>\n                    gene (encoding familial intrahepatic cholestasis 1 [FIC1] deficiency) or the\n                    <jats:italic toggle=\"yes\">ABCB11<\/jats:italic>\n                    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\u2010common (bearing common missense mutations D482G or E297G, with likely residual function) and BSEP\u2010other. We evaluated clinical and biochemical outcomes in these patients. Overall, diversion improved biochemical parameters, pruritus, and growth, with substantial variation in individual response. BSEP\u2010common or FIC1 patients survived longer after diversion without developing cirrhosis, being listed for or undergoing liver transplantation, or dying, compared to BSEP\u2010other patients. Transplantation resolved cholestasis in all groups. However, FIC1 patients commonly developed hepatic steatosis, diarrhea, and\/or pancreatic disease after transplant accompanied by biochemical abnormalities and often had continued poor growth. In BSEP patients with impaired growth, this generally improved after transplantation.\n                    <jats:italic toggle=\"yes\">Conclusion:<\/jats:italic>\n                    Diversion can improve clinical and biochemical status in FIC1 and BSEP deficiencies, but outcomes differ depending on genetic etiology. For many patients, particularly BSEP\u2010other, diversion is not a permanent solution and transplantation is required. Although transplantation resolves cholestasis in patients with FIC1 and BSEP deficiencies, the overall outcome remains unsatisfactory in many FIC1 patients; this is mainly due to extrahepatic manifestations. (\n                    <jats:italic toggle=\"yes\">Hepatology Communications<\/jats:italic>\n                    2018;2:515\u2010528)\n                  <\/jats:p>","DOI":"10.1002\/hep4.1168","type":"journal-article","created":{"date-parts":[[2018,3,30]],"date-time":"2018-03-30T04:15:33Z","timestamp":1522383333000},"page":"515-528","source":"Crossref","is-referenced-by-count":73,"title":["Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies"],"prefix":"10.1097","volume":"2","author":[{"given":"Laura N.","family":"Bull","sequence":"first","affiliation":[{"name":"Liver Center Laboratory, Department of Medicine,University of California San Francisco,San Francisco,CA"},{"name":"Institute for Human Genetics,University of California San Francisco,San Francisco,CA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludmila","family":"Pawlikowska","sequence":"additional","affiliation":[{"name":"Institute for Human Genetics,University of California San Francisco,San Francisco,CA"},{"name":"Department of Anesthesia and Perioperative Care,University of California San Francisco,San Francisco,CA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Strautnieks","sequence":"additional","affiliation":[{"name":"Institute of Liver Studies,King's College London,London,United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irena","family":"Jankowska","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Hepatology, Eating Disorders, and Pediatrics,Children's Memorial Health Institute,Warsaw,Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piotr","family":"Czubkowski","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Hepatology, Eating Disorders, and Pediatrics,Children's Memorial Health Institute,Warsaw,Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer L.","family":"Dodge","sequence":"additional","affiliation":[{"name":"Department of Surgery,University of California San Francisco,San Francisco,CA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karan","family":"Emerick","sequence":"additional","affiliation":[{"name":"Department of Pediatrics,University of Connecticut,Hartford,CT"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Wanty","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Catholique de Louvain,Cliniques Saint Luc, Department of Pediatric Gastroenterology and Hepatology,Brussels,Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sami","family":"Wali","sequence":"additional","affiliation":[{"name":"Department of Pediatrics,Riyadh Armed Forces Hospital,Riyadh,Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samra","family":"Blanchard","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology,University of Maryland,College Park,MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Lacaille","sequence":"additional","affiliation":[{"name":"Department of Pediatrics,H\u00f4pital Necker\u2010Enfants Malades,Paris,France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane A.","family":"Byrne","sequence":"additional","affiliation":[{"name":"Institute of Liver Studies,King's College London,London,United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albertien M.","family":"van Eerde","sequence":"additional","affiliation":[{"name":"Department of Genetics,University Medical Center Utrecht,Utrecht,the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaija\u2010Leena","family":"Kolho","sequence":"additional","affiliation":[{"name":"Children's Hospital,University of Helsinki,Helsinki,Finland"},{"name":"Tampere University,Tampere,Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roderick","family":"Houwen","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology,University Medical Center Utrecht,Utrecht,the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Lobritto","sequence":"additional","affiliation":[{"name":"Center for Liver Disease and Transplantation,Columbia University,New York,NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera","family":"Hupertz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Hepatology, and Nutrition,Cleveland Clinic Foundation,Cleveland,OH"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"McClean","sequence":"additional","affiliation":[{"name":"Children's Liver and Gastroenterology Unit,Leeds Children's Hospital,Leeds,United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgina","family":"Mieli\u2010Vergani","sequence":"additional","affiliation":[{"name":"Institute of Liver Studies,King's College London,London,United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Etienne","family":"Sokal","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Catholique de Louvain,Cliniques Saint Luc, Department of Pediatric Gastroenterology and Hepatology,Brussels,Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Rosenthal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics,University of California San Francisco,San 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Lurie Children's Hospital of Chicago,Chicago,IL"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Pawlowska","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Hepatology, Eating Disorders, and Pediatrics,Children's Memorial Health Institute,Warsaw,Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J.","family":"Thompson","sequence":"additional","affiliation":[{"name":"Institute of Liver Studies,King's College London,London,United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2018,3,30]]},"reference":[{"key":"hep41168-bib-0001-20240220","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1038\/ng0398-219","article-title":"A gene encoding a P\u2010type ATPase mutated in two forms of hereditary cholestasis","volume":"18","year":"1998","journal-title":"Nat 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liver transplantation","volume":"39","year":"2003","journal-title":"J Hepatol"},{"key":"hep41168-bib-0036-20240220","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1053\/j.gastro.2003.12.013","article-title":"Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity","volume":"126","year":"2004","journal-title":"Gastroenterology"},{"key":"hep41168-bib-0037-20240220","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1111\/j.1399-3046.2008.00878.x","article-title":"Liver retransplantation with external biliary diversion for progressive familial intrahepatic cholestasis type 1: a case report","volume":"13","year":"2009","journal-title":"Pediatr Transplant"},{"key":"hep41168-bib-0038-20240220","first-page":"E177","article-title":"Recovery of graft steatosis and protein\u2010losing enteropathy after biliary diversion in a PFIC 1 liver transplanted child","volume":"16","year":"2012","journal-title":"Pediatr 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