دورية أكاديمية
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.
| العنوان: | Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency. |
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| المؤلفون: | Felzen A; Pediatric Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, the Netherlands., van Wessel DBE; Pediatric Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, the Netherlands., Gonzales E; Pediatric Hepatology & Pediatric Liver Transplant Department, Centre de Référence de l'Atrésie des Voies Biliaires et des Cholestases Génétiques, Filière de Santé des Maladies Rares du Foie de l'enfant et de l'adulte, Assistance Publique-Hôpitaux de Paris, Faculté de Médecine Paris-Saclay, CHU Bicêtre, Paris, France.; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; INSERM, UMR-S 1193, Hepatinov, Université Paris-Saclay, Orsay, France., Thompson RJ; Institute of Liver Studies, King's College London, London, United Kingdom., Jankowska I; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland., Shneider BL; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Childhood Liver Disease Research Network (ChiLDReN)., Sokal E; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Pediatric Gastorenterology and Hepatology, Université Catholique de Louvain, Cliniques St Luc, Brussels, Belgium., Grammatikopoulos T; Institute of Liver Studies, King's College London, London, United Kingdom., Kadaristiana A; Institute of Liver Studies, King's College London, London, United Kingdom., Jacquemin E; Pediatric Hepatology & Pediatric Liver Transplant Department, Centre de Référence de l'Atrésie des Voies Biliaires et des Cholestases Génétiques, Filière de Santé des Maladies Rares du Foie de l'enfant et de l'adulte, Assistance Publique-Hôpitaux de Paris, Faculté de Médecine Paris-Saclay, CHU Bicêtre, Paris, France.; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; INSERM, UMR-S 1193, Hepatinov, Université Paris-Saclay, Orsay, France., Spraul A; INSERM, UMR-S 1193, Hepatinov, Université Paris-Saclay, Orsay, France.; Service de Biochemie, Bicêtre Hôspital, AP-HP, Université Paris-Sud, Paris-Saclay, Inserm UMR-S 1174, France., Lipiński P; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland., Czubkowski P; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland., Rock N; Pediatric Gastroenterology, Hepatology and Nutrition Unit, Division of Pediatric Specialties, Department of Pediatrics, Gynecology and Obstetrics, University Hospitals of Geneva, Switzerland., Shagrani M; Liver & SB Transplant & Hepatobiliary-Pancreatic Surgery, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.; Alfaisal University, College of Medicine, Riyadh, Saudi Arabia., Broering D; Liver & SB Transplant & Hepatobiliary-Pancreatic Surgery, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia., Nicastro E; Pediatric Hepatology, Gastroenterology and Transplantation, ASST Papa Giovanni XXIII, Bergamo, Italy., Kelly D; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Liver Unit, Birmingham Women's and Children's Hospital, Birmingham, United Kingdom., Nebbia G; Servizio Di Epatologia e Nutrizione Pediatrica, Fondazione Irccs Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy., Arnell H; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Pediatric Gastroenterology Hepatology and Nutrition, Astrid Lindgren Children's Hospital, Karolinska University Hospital and Karolinska Institutet, Stockholm, Sweden., Fischler B; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Pediatric Gastroenterology Hepatology and Nutrition, Astrid Lindgren Children's Hospital, Karolinska University Hospital and Karolinska Institutet, Stockholm, Sweden., Hulscher JBF; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Pediatric Surgery, University Medical Center Groningen, Groningen, the Netherlands., Serranti D; Pediatric and Liver Unit, Meyer Children's University Hospital of Florence, Florence, Italy., Arikan C; Koc University School of Medicine, Pediatric GI and Hepatology Liver Transplantation Center, Kuttam System in Liver Medicine, Istanbul, Turkey., Polat E; Pediatric Gastroenterology, Sancaktepe Training and Research Hospital, Istanbul, Turkey., Debray D; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Gastroenterology-Hepatology-Nutrition Unit, APHP-Necker Enfants Malades University Hospital, Paris, France., Lacaille F; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Gastroenterology-Hepatology-Nutrition Unit, APHP-Necker Enfants Malades University Hospital, Paris, France., Goncalves C; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Previously Coimbra University Hospital Center, Coimbra, Portugal, Now Pediatric Gastroenterology/Hepatology Center Lisbon, Portugal., Hierro L; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Service of Pediatric Hepatology and Transplantation, Children's Hospital La Paz, La Paz University Hospital, Madrid, Spain., Muñoz Bartolo G; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Service of Pediatric Hepatology and Transplantation, Children's Hospital La Paz, La Paz University Hospital, Madrid, Spain., Mozer-Glassberg Y; Institute of Gastroenterology, Nutrition and Liver Diseases, Schneider Children's Medical Center of Israel, Petah Tikva, Israel., Azaz A; Pediatric Gastroenterology, Hepatology and Nutrition, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates., Brecelj J; Department of Gastroenterology, Hepatology and Nutrition, University Children's Hospital Ljubljana, and Department of Pediatrics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Pediatrics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Dezsőfi A; Department of Pediatrics, Semmelweis University, Budapest, Hungary., Calvo PL; Pediatic Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera Città Della Salute e Della Scienza University Hospital, Turin, Italy., Grabhorn E; Pediatric Hepatology and Liver Transplantation, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Hartleif S; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Pediatric Gastroenterology and Hepatology, University Children's Hospital Tυ¨bingen, University Medical Center Tυ¨bingen, Tυ¨bingen, Germany., van der Woerd WJ; Pediatric Gastroenterology, Hepatology and Nutrition, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands., Kamath BM; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children and the University of Toronto, Toronto, Canada., Wang JS; Children's Hospital of Fudan University, Shanghai, China., Li L; Children's Hospital of Fudan University, Shanghai, China., Durmaz Ö; Department of Child Health and Diseases, Gastroenterology, Hepatology and Nutrition, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Kerkar N; Pediatric Gastroenterology, Hepatology and Nutrition, University of Rochester Medical Center, Rochester, NY, USA., Jørgensen MH; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Department of Pediatrics and Adolescent Medicine, Rigshospitalet Copenhagen University Hospital, Copenhagen, Denmark., Fischer R; Pediatric Gastroenterology, Hepatology and Nutrition, Children's Mercy Hospital, Kansas City, MO, USA., Jimenez-Rivera C; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada., Alam S; Pediatric Hepatology, Institute of Liver and Biliary Sciences, New Delhi, India., Cananzi M; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Unit of Pediatric Gastroenterology, Digestive Endoscopy, Hepatology and Care of the Child with Liver Transplantation, Department of Women's and Children's Health, University Hospital of Padova, Padova, Italy., Laverdure N; Service de Gastroentérologie, Hépatologie et Nutrition Pédiatriques, Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Lyon, France., Ferreira CT; Pediatric Gastroenterology, Hospital da Criança Santo Antônio, Porto Allegre, Brazil., Guerrero FO; Pediatric Gastroenterology and Hepatology, Fundación Cardioinfantil Instituto de Cardiologia, Bogotá, Colombia., Wang H; DDC Clinic - Center for Special Needs Children, Adolescent Medicine and Pediatrics, Middlefield, OH, USA., Sency V; DDC Clinic - Center for Special Needs Children, Adolescent Medicine and Pediatrics, Middlefield, OH, USA., Kim KM; Department of Pediatrics, Asan Medical Center Children's Hospital, Seoul, South Korea., Chen HL; Division of Pediatric Gastroenterology, Hepatology and Nutrition, National Taiwan University Children's Hospital, Taipei, Taiwan., de Carvalho E; Pediatric Gastroenterology and Hepatology, Brasília Children's Hospital, Brasilia, Brazil., Fabre A; INSERM, MMG, Aix Marseille University, Marseille, France.; Service de Pédiatrie Multidisciplinaire, Timone Enfant, Marseille, France., Bernabeu JQ; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Pediatric Hepatology and Liver Transplant Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Zellos A; First Department of Pediatrics, Aghia Sophia Children's Hospital, National and Kapodistrian University of Athens, Greece., Alonso EM; Childhood Liver Disease Research Network (ChiLDReN).; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, USA., Sokol RJ; Childhood Liver Disease Research Network (ChiLDReN).; Section of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA., Suchy FJ; Childhood Liver Disease Research Network (ChiLDReN).; Section of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA., Loomes KM; Childhood Liver Disease Research Network (ChiLDReN).; Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, PA, USA., McKiernan PJ; Childhood Liver Disease Research Network (ChiLDReN).; Department of Pediatric Gastroenterology and Hepatology, University of Pittsburgh Medical Center Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Rosenthal P; Childhood Liver Disease Research Network (ChiLDReN).; Department of Pediatrics and Surgery, UCSF Benioff Children's Hospital, University of California San Francisco School of Medicine, San Francisco, CA, USA., Turmelle Y; Childhood Liver Disease Research Network (ChiLDReN).; Section of Hepatology, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA., Horslen S; Childhood Liver Disease Research Network (ChiLDReN).; Department of Pediatric Gastroenterology and Hepatology, University of Pittsburgh Medical Center Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Schwarz K; Childhood Liver Disease Research Network (ChiLDReN).; Division of Pediatric Gastroenterology, University of California San Diego, Rady Children's Hospital San Diego, CA, USA., Bezerra JA; Childhood Liver Disease Research Network (ChiLDReN).; Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Wang K; Childhood Liver Disease Research Network (ChiLDReN).; Division of General Pediatric Surgery, Children's Hospital Los Angeles, Los Angeles, CA, USA., Hansen BE; Toronto Center for Liver Disease, University Health Network, Toronto, Canada.; IHPME, University of Toronto, Toronto, Canada.; Department of Gastroenterology and Hepatology, Erasmus University Medical Center, Rotterdam, the Netherlands., Verkade HJ; Pediatric Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, the Netherlands.; European Reference Network on Hepatological Diseases (ERN RARE-LIVER). |
| مؤلفون مشاركون: | NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) Consortium |
| المصدر: | JHEP reports : innovation in hepatology [JHEP Rep] 2022 Nov 16; Vol. 5 (2), pp. 100626. Date of Electronic Publication: 2022 Nov 16 (Print Publication: 2023). |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101761237 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-5559 (Electronic) Linking ISSN: 25895559 NLM ISO Abbreviation: JHEP Rep Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: [Amsterdam] : Elsevier B.V., [2019]- |
| مستخلص: | Background & Aims: Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.E297G mutations are associated with relatively mild phenotypes, responsive to surgical interruption of the enterohepatic circulation (siEHC). The phenotype of patients with a compound heterozygous genotype of one p.D482G or p.E297G mutation and one PPTM has remained unclear. We aimed to assess their genotype-phenotype relationship. Methods: From the NAPPED database, we selected patients with homozygous p.D482G or p.E297G mutations (BSEP1/1; n = 31), with one p.D482G or p.E297G, and one PPTM (BSEP1/3; n = 30), and with two PPTMs (BSEP3/3; n = 77). We compared clinical presentation, native liver survival (NLS), and the effect of siEHC on NLS. Results: The groups had a similar median age at presentation (0.7-1.3 years). Overall NLS at age 10 years was 21% in BSEP1/3 vs. 75% in BSEP1/1 and 23% in BSEP3/3 ( p < 0.001). Without siEHC, NLS in the BSEP1/3 group was similar to that in BSEP3/3, but considerably lower than in BSEP1/1 (at age 10 years: 38%, 30%, and 71%, respectively; p = 0.003). After siEHC, BSEP1/3 and BSEP3/3 were associated with similarly low NLS, while NLS was much higher in BSEP1/1 (10 years after siEHC, 27%, 14%, and 92%, respectively; p < 0.001). Conclusions: Individuals with BSEP deficiency with one p.E297G or p.D482G mutation and one PPTM have a similarly severe disease course and low responsiveness to siEHC as those with two PPTMs. This identifies a considerable subgroup of patients who are unlikely to benefit from interruption of the enterohepatic circulation by either surgical or ileal bile acid transporter inhibitor treatment. Impact and Implications: This manuscript defines the clinical features and prognosis of individuals with BSEP deficiency involving the combination of one relatively mild and one very severe BSEP deficiency mutation. Until now, it had always been assumed that the mild mutation would be enough to ensure a relatively good prognosis. However, our manuscript shows that the prognosis of these patients is just as poor as that of patients with two severe mutations. They do not respond to biliary diversion surgery and will likely not respond to the new IBAT (ileal bile acid transporter) inhibitors, which have recently been approved for use in BSEP deficiency. Competing Interests: Antonia Felzen [MD/PhD scholarship University of Groningen], Daan B.E. van Wessel [MD/PhD scholarship University of Groningen], Emmanuel M. Gonzales [Consultant for CTRS, Vivet Therapeutics, Mirum Pharmaceuticals and Albireo], Richard J. Thompson [Consultant for Shire, Albireo, Mirum Pharmaceuticals, Horizon Pharmaceuticals, Sana Biotechnology, GenerationBio, Retrophin and Qing Bile Therapeutics], Irena Jankowska [Nothing to disclose], Benjamin L. Shneider [Nothing to disclose], Etienne Sokal [Founder, board director and Chairman of the Scientific & Medical advisor board of Promethera Biosciences; consultant Johnson&Johnson], Tassos Grammatikopoulos [Consultant for Albireo], Agustina Kadaristiana [Nothing to disclose], Emmanuel Jacquemin [Consultant for CTRS and Vivet Therapeutics], Anne Spraul [Nothing to disclose], Patryk Lipiński [Nothing to disclose], Piotr Czubkowski [Nothing to disclose], Nathalie Rock [Nothing to disclose], Mohammad Shagrani [Nothing to disclose], Dieter Broering [Nothing to disclose], Emanuele Nicastro [Nothing to disclose] Deirdre Kelly [Consultant for Albireo], Gabriela Nebbia [Nothing to disclose], Henrik Arnell [Consultant for Albireo and Mirum Pharmaceuticals], Bjorn Fischler [Attended one advisory board meeting with Albireo in 2016], Jan Hulscher [Nothing to disclose], Daniele Serranti [Nothing to disclose], Cigdem Arikan [Nothing to disclose], Esra Polat [Nothing to disclose], Dominique Debray [Consultant for Alexion and Orphalan pharmaceuticals], Florence Lacaille [Nothing to disclose], Cristina Goncalves [Nothing to disclose], Loreto Hierro [Nothing to disclose], Gema Munoz Bartolo [Nothing to disclose], Yael Mozer- Glassberg [Nothing to disclose], Amer Azaz [Nothing to disclose], Jernej Brecelj [Nothing to disclose], Antal Dezsofi [Nothing to disclose], Pier Luigi Calvo [Nothing to disclose], Enke Grabhorn [Nothing to disclose], Ekkehard Sturm [Nothing to disclose] Wendy van der Woerd [Nothing to disclose], Binita Kamath [Consultant for Mirum Pharmaceuticals, Shire and DCI], Jian-She Wang [Nothing to disclose], Liting Li [Nothing to disclose], Özlem Durmaz [Nothing to disclose], Nanda Kerkar [Nothing to disclose], Marianne Hørby Jørgensen [Nothing to disclose], Ryan Fischer [Consultant for Albireo and Mirum Pharmaceuticals], Carolina Jimenez-Rivera [Nothing to disclose], Seema Alam [Nothing to disclose], Mara Cananzi [Attended one advisory board meeting with Albireo, Mirum Pharmaceuticals and Nestlè; consultant for CTRS], Noemie Laverdure [Consultant for Abbvie], Cristina Targa Ferreira [Nothing to disclose], Felipe Ordoñez Guerrero [Nothing to disclose], Heng Wang [Nothing to disclose], Valerie Sency [Nothing to disclose], Kyungmo Kim [Nothing to disclose], Huey-Ling Chen [Nothing to disclose], Elisa de Carvalho [Nothing to disclose], Alexandre Fabre [Nothing to disclose], Jesus Quintero Bernabeu [Nothing to disclose], Aglaia Zellos [Nothing to disclose], Estella M. Alonso [Nothing to disclose], Ronald J. Sokol [Consultant for Albireo and Mirum Pharmaceuticals], Frederick J. Suchy [Nothing to disclose], Kathleen M. Loomes [Consultant for Albireo, Mirum and Travere Therapeutics], Patrick J. McKiernan [Consultant for Albireo], Philip Rosenthal [Grant/Research Support by Gilead, AbbVie, Merck, Albireo, Mirum Pharmaceuticals, Arrowhead and Travere; consultant for Gilead, AbbVie, Audentes, Dicerna, Albireo, Mirum Pharmaceuticals, Travere, Takeda, Encoded, BioMarin, MedinCell and Ambys], Yumirle Turmelle [Nothing to disclose], Simon Horslen [Grant/Research support from Mirum Pharmaceuticals], Kathleen Schwarz [Grant support from Gilead, Albireo and the Global Alagille Syndrome Alliance; consultant for Mirum Pharmaceuticals, Up to Date and Sarepta], Jorge A. Bezerra [Grant support from Gilead and Albireo], Kasper Wang [Nothing to disclose], Bettina Hansen [Unrestricted grant support from Cymabay, Intercept, Calliditas, Mirum Pharmaceuticals and Albireo; consultant for Mirum Pharmaceuticals, Albireo AB, Chemomab, Calliditas, Intercept, Cyma Bay,], Henkjan J. Verkade [Consultant for Danone/Nutricia Research, Ausnutria BV, Albireo AB, Mirum Parmaceuticals, Intercept and Vivet]. Please refer to the accompanying ICMJE disclosure forms for further details. (© 2022 The Author(s).) |
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| فهرسة مساهمة: | Keywords: ABCB11, ATP-binding cassette, sub-family B member 11; ALT, alanine aminotransferase; AST, aspartate aminotransferase; BSEP; BSEP, bile salt export pump; ChiLDReN, Childhood Liver Disease Research Network; GGT, gamma-glutamyltransferase; HCC, hepatocellular carcinoma; LTx, liver transplantation; NAPPED, NAtural course and Prognosis of PFIC and Effect of biliary Diversion; NLS, native liver survival; PFIC2; PFIC2, progressive familial intrahepatic cholestasis type 2; PPTM, predicted protein truncating mutation; REDCap, Research Electronic Data Capture; TSB, total serum bilirubin; UDCA, ursodeoxycholic acid; compound heterozygosity; genotype; interruption of the enterohepatic circulation; phenotype; sBAs, serum bile acids; siEHC, surgical interruption of the enterohepatic circulation |
| تواريخ الأحداث: | Date Created: 20230123 Latest Revision: 20230201 |
| رمز التحديث: | 20240628 |
| مُعرف محوري في PubMed: | PMC9852554 |
| DOI: | 10.1016/j.jhepr.2022.100626 |
| PMID: | 36687469 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 2589-5559 |
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| DOI: | 10.1016/j.jhepr.2022.100626 |