Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency
Background and Aims Mutations in ATPase phospholipid transporting 8B1 (ATP8B1) can lead to familial intrahepatic cholestasis type 1 (FIC1) deficiency, or progressive familial intrahepatic cholestasis type 1. The rarity of FIC1 deficiency has largely prevented a detailed analysis of its natural histo...
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| Veröffentlicht in: | Hepatology (Baltimore, Md.) Md.), 2021-08, Vol.74 (2), p.892-906 |
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| creator | Wessel, Daan B.E. Thompson, Richard J. Gonzales, Emmanuel Jankowska, Irena Shneider, Benjamin L. Sokal, Etienne Grammatikopoulos, Tassos Kadaristiana, Agustina Jacquemin, Emmanuel Spraul, Anne Lipiński, Patryk Czubkowski, Piotr Rock, Nathalie Shagrani, Mohammad Broering, Dieter Algoufi, Talal Mazhar, Nejat Nicastro, Emanuele Kelly, Deirdre Nebbia, Gabriella Arnell, Henrik Fischler, Björn Hulscher, Jan B.F. Serranti, Daniele Arikan, Cigdem Debray, Dominique Lacaille, Florence Goncalves, Cristina Hierro, Loreto Muñoz Bartolo, Gema Mozer‐Glassberg, Yael Azaz, Amer Brecelj, Jernej Dezsőfi, Antal Luigi Calvo, Pier Krebs‐Schmitt, Dorothee Hartleif, Steffen Woerd, Wendy L. Wang, Jian‐She Li, Li‐ting Durmaz, Özlem Kerkar, Nanda Hørby Jørgensen, Marianne Fischer, Ryan Jimenez‐Rivera, Carolina Alam, Seema Cananzi, Mara Laverdure, Noémie Targa Ferreira, Cristina Ordonez, Felipe Wang, Heng Sency, Valerie Mo Kim, Kyung Chen, Huey‐Ling Carvalho, Elisa Fabre, Alexandre Quintero Bernabeu, Jesus Alonso, Estella M. Sokol, Ronald J. Suchy, Frederick J. Loomes, Kathleen M. McKiernan, Patrick J. Rosenthal, Philip Turmelle, Yumirle Rao, Girish S. Horslen, Simon Kamath, Binita M. Rogalidou, Maria Karnsakul, Wikrom W. Hansen, Bettina Verkade, Henkjan J. |
| description | Background and Aims
Mutations in ATPase phospholipid transporting 8B1 (ATP8B1) can lead to familial intrahepatic cholestasis type 1 (FIC1) deficiency, or progressive familial intrahepatic cholestasis type 1. The rarity of FIC1 deficiency has largely prevented a detailed analysis of its natural history, effects of predicted protein truncating mutations (PPTMs), and possible associations of serum bile acid (sBA) concentrations and surgical biliary diversion (SBD) with long‐term outcome. We aimed to provide insights by using the largest genetically defined cohort of patients with FIC1 deficiency to date.
Approach and Results
This multicenter, combined retrospective and prospective study included 130 patients with compound heterozygous or homozygous predicted pathogenic ATP8B1 variants. Patients were categorized according to the number of PPTMs (i.e., splice site, frameshift due to deletion or insertion, nonsense, duplication), FIC1‐A (n = 67; no PPTMs), FIC1‐B (n = 29; one PPTM), or FIC1‐C (n = 34; two PPTMs). Survival analysis showed an overall native liver survival (NLS) of 44% at age 18 years. NLS was comparable among FIC1‐A, FIC1‐B, and FIC1‐C (% NLS at age 10 years: 67%, 41%, and 59%, respectively; P = 0.12), despite FIC1‐C undergoing SBD less often (% SBD at age 10 years: 65%, 57%, and 45%, respectively; P = 0.03). sBAs at presentation were negatively associated with NLS (NLS at age 10 years, sBAs |
| doi_str_mv | 10.1002/hep.31787 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_swepu</sourceid><recordid>TN_cdi_swepub_primary_oai_swepub_ki_se_463830</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2498485343</sourcerecordid><originalsourceid>FETCH-LOGICAL-c5157-e9554b2e0fe04c7c626ce03dd54873c7f71445515823e67284e48cc036e2d7cc3</originalsourceid><addsrcrecordid>eNp1kl1v0zAUhiMEYt3ggj-ALHED0rL5287NpNJ9tFIFSINrK3NOVo80CXaSqf9-DimDTcKyZPuc57w-tt4keUfwCcGYnm6gPWFEafUimRFBVcqYwC-TGaYKpxlh2UFyGMIdxjjjVL9ODhiTUlIlZkm72ra57VBToiuom27XwjG6Bt9v0WdXAZpbV4RjlNcFuu79rbN5NSZc7nfo3A3gg2tqFOeXvItHtB5jIzq4IaKuRperBUHnUDrroLa7N8mrMq8CvN2vR8mPy4vvi2W6_nq1WszXqRVEqBQyIfgNBVwC5lZZSaUFzIpCcK2YVaUinIuIaspAKqo5cG0tZhJooaxlR0k66YZ7aPsb03q3jU2bJndmH_oZd2C4ZJrhyJ9NfMxsobBQdz6vnpQ9zdRuY26bwWguZIZ5FPg0CWyelS3nazPGYm-SUaYHEtmP-8t886uH0JmtCxaqKq-h6YOhPNNcC8ZZRD88Q--a3tfx6wwVko-Dyb-XW9-E4KF87IBgM3rERI-Y3x6J7Pt_X_pI_jFFBE4n4D46YPd_JbO8-DZJPgBx0cRp</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2564444436</pqid></control><display><type>article</type><title>Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>SWEPUB Freely available online</source><creator>Wessel, Daan B.E. ; Thompson, Richard J. ; Gonzales, Emmanuel ; Jankowska, Irena ; Shneider, Benjamin L. ; Sokal, Etienne ; Grammatikopoulos, Tassos ; Kadaristiana, Agustina ; Jacquemin, Emmanuel ; Spraul, Anne ; Lipiński, Patryk ; Czubkowski, Piotr ; Rock, Nathalie ; Shagrani, Mohammad ; Broering, Dieter ; Algoufi, Talal ; Mazhar, Nejat ; Nicastro, Emanuele ; Kelly, Deirdre ; Nebbia, Gabriella ; Arnell, Henrik ; Fischler, Björn ; Hulscher, Jan B.F. ; Serranti, Daniele ; Arikan, Cigdem ; Debray, Dominique ; Lacaille, Florence ; Goncalves, Cristina ; Hierro, Loreto ; Muñoz Bartolo, Gema ; Mozer‐Glassberg, Yael ; Azaz, Amer ; Brecelj, Jernej ; Dezsőfi, Antal ; Luigi Calvo, Pier ; Krebs‐Schmitt, Dorothee ; Hartleif, Steffen ; Woerd, Wendy L. ; Wang, Jian‐She ; Li, Li‐ting ; Durmaz, Özlem ; Kerkar, Nanda ; Hørby Jørgensen, Marianne ; Fischer, Ryan ; Jimenez‐Rivera, Carolina ; Alam, Seema ; Cananzi, Mara ; Laverdure, Noémie ; Targa Ferreira, Cristina ; Ordonez, Felipe ; Wang, Heng ; Sency, Valerie ; Mo Kim, Kyung ; Chen, Huey‐Ling ; Carvalho, Elisa ; Fabre, Alexandre ; Quintero Bernabeu, Jesus ; Alonso, Estella M. ; Sokol, Ronald J. ; Suchy, Frederick J. ; Loomes, Kathleen M. ; McKiernan, Patrick J. ; Rosenthal, Philip ; Turmelle, Yumirle ; Rao, Girish S. ; Horslen, Simon ; Kamath, Binita M. ; Rogalidou, Maria ; Karnsakul, Wikrom W. ; Hansen, Bettina ; Verkade, Henkjan J.</creator><creatorcontrib>Wessel, Daan B.E. ; Thompson, Richard J. ; Gonzales, Emmanuel ; Jankowska, Irena ; Shneider, Benjamin L. ; Sokal, Etienne ; Grammatikopoulos, Tassos ; Kadaristiana, Agustina ; Jacquemin, Emmanuel ; Spraul, Anne ; Lipiński, Patryk ; Czubkowski, Piotr ; Rock, Nathalie ; Shagrani, Mohammad ; Broering, Dieter ; Algoufi, Talal ; Mazhar, Nejat ; Nicastro, Emanuele ; Kelly, Deirdre ; Nebbia, Gabriella ; Arnell, Henrik ; Fischler, Björn ; Hulscher, Jan B.F. ; Serranti, Daniele ; Arikan, Cigdem ; Debray, Dominique ; Lacaille, Florence ; Goncalves, Cristina ; Hierro, Loreto ; Muñoz Bartolo, Gema ; Mozer‐Glassberg, Yael ; Azaz, Amer ; Brecelj, Jernej ; Dezsőfi, Antal ; Luigi Calvo, Pier ; Krebs‐Schmitt, Dorothee ; Hartleif, Steffen ; Woerd, Wendy L. ; Wang, Jian‐She ; Li, Li‐ting ; Durmaz, Özlem ; Kerkar, Nanda ; Hørby Jørgensen, Marianne ; Fischer, Ryan ; Jimenez‐Rivera, Carolina ; Alam, Seema ; Cananzi, Mara ; Laverdure, Noémie ; Targa Ferreira, Cristina ; Ordonez, Felipe ; Wang, Heng ; Sency, Valerie ; Mo Kim, Kyung ; Chen, Huey‐Ling ; Carvalho, Elisa ; Fabre, Alexandre ; Quintero Bernabeu, Jesus ; Alonso, Estella M. ; Sokol, Ronald J. ; Suchy, Frederick J. ; Loomes, Kathleen M. ; McKiernan, Patrick J. ; Rosenthal, Philip ; Turmelle, Yumirle ; Rao, Girish S. ; Horslen, Simon ; Kamath, Binita M. ; Rogalidou, Maria ; Karnsakul, Wikrom W. ; Hansen, Bettina ; Verkade, Henkjan J. ; Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium ; on behalf of Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium</creatorcontrib><description>Background and Aims
Mutations in ATPase phospholipid transporting 8B1 (ATP8B1) can lead to familial intrahepatic cholestasis type 1 (FIC1) deficiency, or progressive familial intrahepatic cholestasis type 1. The rarity of FIC1 deficiency has largely prevented a detailed analysis of its natural history, effects of predicted protein truncating mutations (PPTMs), and possible associations of serum bile acid (sBA) concentrations and surgical biliary diversion (SBD) with long‐term outcome. We aimed to provide insights by using the largest genetically defined cohort of patients with FIC1 deficiency to date.
Approach and Results
This multicenter, combined retrospective and prospective study included 130 patients with compound heterozygous or homozygous predicted pathogenic ATP8B1 variants. Patients were categorized according to the number of PPTMs (i.e., splice site, frameshift due to deletion or insertion, nonsense, duplication), FIC1‐A (n = 67; no PPTMs), FIC1‐B (n = 29; one PPTM), or FIC1‐C (n = 34; two PPTMs). Survival analysis showed an overall native liver survival (NLS) of 44% at age 18 years. NLS was comparable among FIC1‐A, FIC1‐B, and FIC1‐C (% NLS at age 10 years: 67%, 41%, and 59%, respectively; P = 0.12), despite FIC1‐C undergoing SBD less often (% SBD at age 10 years: 65%, 57%, and 45%, respectively; P = 0.03). sBAs at presentation were negatively associated with NLS (NLS at age 10 years, sBAs < 194 µmol/L: 49% vs. sBAs ≥ 194 µmol/L: 15%; P = 0.03). SBD decreased sBAs (230 [125‐282] to 74 [11‐177] μmol/L; P = 0.005). SBD (HR 0.55, 95% CI 0.28‐1.03, P = 0.06) and post‐SBD sBA concentrations < 65 μmol/L (P = 0.05) tended to be associated with improved NLS.
Conclusions
Less than half of patients with FIC1 deficiency reach adulthood with native liver. The number of PPTMs did not associate with the natural history or prognosis of FIC1 deficiency. sBA concentrations at initial presentation and after SBD provide limited prognostic information on long‐term NLS.</description><identifier>ISSN: 0270-9139</identifier><identifier>EISSN: 1527-3350</identifier><identifier>DOI: 10.1002/hep.31787</identifier><identifier>PMID: 33666275</identifier><language>eng</language><publisher>United States: Wolters Kluwer Health, Inc</publisher><subject>Adenosine triphosphatase ; Adenosine Triphosphatases - deficiency ; Adenosine Triphosphatases - genetics ; Adolescent ; Age ; Bile acids ; Bile Acids and Salts - blood ; Bile Ducts, Intrahepatic - surgery ; Child ; Child, Preschool ; Cholestasis ; Cholestasis, Intrahepatic - blood ; Cholestasis, Intrahepatic - genetics ; Cholestasis, Intrahepatic - mortality ; Cholestasis, Intrahepatic - surgery ; Codon, Nonsense ; Female ; Follow-Up Studies ; Gallbladder diseases ; Genetics ; Genotypes ; Hepatology ; Human health and pathology ; Humans ; Infant ; Insertion ; Life Sciences ; Liver ; Liver Transplantation - statistics & numerical data ; Male ; Medical prognosis ; Mutation ; Original ; Phospholipids ; Prognosis ; Prospective Studies ; Retrospective Studies ; Risk Assessment - methods ; Risk Assessment - statistics & numerical data ; Survival ; Survival Analysis ; Treatment Outcome ; Young Adult</subject><ispartof>Hepatology (Baltimore, Md.), 2021-08, Vol.74 (2), p.892-906</ispartof><rights>The Authors. H published by Wiley Periodicals LLC on behalf of American Association for the Study of Liver Diseases</rights><rights>The Authors. Hepatology published by Wiley Periodicals LLC on behalf of American Association for the Study of Liver Diseases.</rights><rights>The Authors. Hepatologypublished by Wiley Periodicals LLC on behalf of American Association for the Study of Liver Diseases. This article is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5157-e9554b2e0fe04c7c626ce03dd54873c7f71445515823e67284e48cc036e2d7cc3</citedby><cites>FETCH-LOGICAL-c5157-e9554b2e0fe04c7c626ce03dd54873c7f71445515823e67284e48cc036e2d7cc3</cites><orcidid>0000-0002-2608-5087 ; 0000-0002-4074-5838 ; 0000-0001-5597-4708 ; 0000-0002-1546-3193 ; 0000-0003-0730-0201 ; 0000-0002-7536-6272 ; 0000-0002-4710-4793 ; 0000-0002-5272-4970 ; 0000-0002-3217-4035</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fhep.31787$$EPDF$$P50$$Gwiley$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fhep.31787$$EHTML$$P50$$Gwiley$$Hfree_for_read</linktohtml><link.rule.ids>230,314,550,776,780,881,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33666275$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://amu.hal.science/hal-03663238$$DView record in HAL$$Hfree_for_read</backlink><backlink>$$Uhttp://kipublications.ki.se/Default.aspx?queryparsed=id:147152873$$DView record from Swedish Publication Index$$Hfree_for_read</backlink></links><search><creatorcontrib>Wessel, Daan B.E.</creatorcontrib><creatorcontrib>Thompson, Richard J.</creatorcontrib><creatorcontrib>Gonzales, Emmanuel</creatorcontrib><creatorcontrib>Jankowska, Irena</creatorcontrib><creatorcontrib>Shneider, Benjamin L.</creatorcontrib><creatorcontrib>Sokal, Etienne</creatorcontrib><creatorcontrib>Grammatikopoulos, Tassos</creatorcontrib><creatorcontrib>Kadaristiana, Agustina</creatorcontrib><creatorcontrib>Jacquemin, Emmanuel</creatorcontrib><creatorcontrib>Spraul, Anne</creatorcontrib><creatorcontrib>Lipiński, Patryk</creatorcontrib><creatorcontrib>Czubkowski, Piotr</creatorcontrib><creatorcontrib>Rock, Nathalie</creatorcontrib><creatorcontrib>Shagrani, Mohammad</creatorcontrib><creatorcontrib>Broering, Dieter</creatorcontrib><creatorcontrib>Algoufi, Talal</creatorcontrib><creatorcontrib>Mazhar, Nejat</creatorcontrib><creatorcontrib>Nicastro, Emanuele</creatorcontrib><creatorcontrib>Kelly, Deirdre</creatorcontrib><creatorcontrib>Nebbia, Gabriella</creatorcontrib><creatorcontrib>Arnell, Henrik</creatorcontrib><creatorcontrib>Fischler, Björn</creatorcontrib><creatorcontrib>Hulscher, Jan B.F.</creatorcontrib><creatorcontrib>Serranti, Daniele</creatorcontrib><creatorcontrib>Arikan, Cigdem</creatorcontrib><creatorcontrib>Debray, Dominique</creatorcontrib><creatorcontrib>Lacaille, Florence</creatorcontrib><creatorcontrib>Goncalves, Cristina</creatorcontrib><creatorcontrib>Hierro, Loreto</creatorcontrib><creatorcontrib>Muñoz Bartolo, Gema</creatorcontrib><creatorcontrib>Mozer‐Glassberg, Yael</creatorcontrib><creatorcontrib>Azaz, Amer</creatorcontrib><creatorcontrib>Brecelj, Jernej</creatorcontrib><creatorcontrib>Dezsőfi, Antal</creatorcontrib><creatorcontrib>Luigi Calvo, Pier</creatorcontrib><creatorcontrib>Krebs‐Schmitt, Dorothee</creatorcontrib><creatorcontrib>Hartleif, Steffen</creatorcontrib><creatorcontrib>Woerd, Wendy L.</creatorcontrib><creatorcontrib>Wang, Jian‐She</creatorcontrib><creatorcontrib>Li, Li‐ting</creatorcontrib><creatorcontrib>Durmaz, Özlem</creatorcontrib><creatorcontrib>Kerkar, Nanda</creatorcontrib><creatorcontrib>Hørby Jørgensen, Marianne</creatorcontrib><creatorcontrib>Fischer, Ryan</creatorcontrib><creatorcontrib>Jimenez‐Rivera, Carolina</creatorcontrib><creatorcontrib>Alam, Seema</creatorcontrib><creatorcontrib>Cananzi, Mara</creatorcontrib><creatorcontrib>Laverdure, Noémie</creatorcontrib><creatorcontrib>Targa Ferreira, Cristina</creatorcontrib><creatorcontrib>Ordonez, Felipe</creatorcontrib><creatorcontrib>Wang, Heng</creatorcontrib><creatorcontrib>Sency, Valerie</creatorcontrib><creatorcontrib>Mo Kim, Kyung</creatorcontrib><creatorcontrib>Chen, Huey‐Ling</creatorcontrib><creatorcontrib>Carvalho, Elisa</creatorcontrib><creatorcontrib>Fabre, Alexandre</creatorcontrib><creatorcontrib>Quintero Bernabeu, Jesus</creatorcontrib><creatorcontrib>Alonso, Estella M.</creatorcontrib><creatorcontrib>Sokol, Ronald J.</creatorcontrib><creatorcontrib>Suchy, Frederick J.</creatorcontrib><creatorcontrib>Loomes, Kathleen M.</creatorcontrib><creatorcontrib>McKiernan, Patrick J.</creatorcontrib><creatorcontrib>Rosenthal, Philip</creatorcontrib><creatorcontrib>Turmelle, Yumirle</creatorcontrib><creatorcontrib>Rao, Girish S.</creatorcontrib><creatorcontrib>Horslen, Simon</creatorcontrib><creatorcontrib>Kamath, Binita M.</creatorcontrib><creatorcontrib>Rogalidou, Maria</creatorcontrib><creatorcontrib>Karnsakul, Wikrom W.</creatorcontrib><creatorcontrib>Hansen, Bettina</creatorcontrib><creatorcontrib>Verkade, Henkjan J.</creatorcontrib><creatorcontrib>Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium</creatorcontrib><creatorcontrib>on behalf of Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium</creatorcontrib><title>Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency</title><title>Hepatology (Baltimore, Md.)</title><addtitle>Hepatology</addtitle><description>Background and Aims
Mutations in ATPase phospholipid transporting 8B1 (ATP8B1) can lead to familial intrahepatic cholestasis type 1 (FIC1) deficiency, or progressive familial intrahepatic cholestasis type 1. The rarity of FIC1 deficiency has largely prevented a detailed analysis of its natural history, effects of predicted protein truncating mutations (PPTMs), and possible associations of serum bile acid (sBA) concentrations and surgical biliary diversion (SBD) with long‐term outcome. We aimed to provide insights by using the largest genetically defined cohort of patients with FIC1 deficiency to date.
Approach and Results
This multicenter, combined retrospective and prospective study included 130 patients with compound heterozygous or homozygous predicted pathogenic ATP8B1 variants. Patients were categorized according to the number of PPTMs (i.e., splice site, frameshift due to deletion or insertion, nonsense, duplication), FIC1‐A (n = 67; no PPTMs), FIC1‐B (n = 29; one PPTM), or FIC1‐C (n = 34; two PPTMs). Survival analysis showed an overall native liver survival (NLS) of 44% at age 18 years. NLS was comparable among FIC1‐A, FIC1‐B, and FIC1‐C (% NLS at age 10 years: 67%, 41%, and 59%, respectively; P = 0.12), despite FIC1‐C undergoing SBD less often (% SBD at age 10 years: 65%, 57%, and 45%, respectively; P = 0.03). sBAs at presentation were negatively associated with NLS (NLS at age 10 years, sBAs < 194 µmol/L: 49% vs. sBAs ≥ 194 µmol/L: 15%; P = 0.03). SBD decreased sBAs (230 [125‐282] to 74 [11‐177] μmol/L; P = 0.005). SBD (HR 0.55, 95% CI 0.28‐1.03, P = 0.06) and post‐SBD sBA concentrations < 65 μmol/L (P = 0.05) tended to be associated with improved NLS.
Conclusions
Less than half of patients with FIC1 deficiency reach adulthood with native liver. The number of PPTMs did not associate with the natural history or prognosis of FIC1 deficiency. sBA concentrations at initial presentation and after SBD provide limited prognostic information on long‐term NLS.</description><subject>Adenosine triphosphatase</subject><subject>Adenosine Triphosphatases - deficiency</subject><subject>Adenosine Triphosphatases - genetics</subject><subject>Adolescent</subject><subject>Age</subject><subject>Bile acids</subject><subject>Bile Acids and Salts - blood</subject><subject>Bile Ducts, Intrahepatic - surgery</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Cholestasis</subject><subject>Cholestasis, Intrahepatic - blood</subject><subject>Cholestasis, Intrahepatic - genetics</subject><subject>Cholestasis, Intrahepatic - mortality</subject><subject>Cholestasis, Intrahepatic - surgery</subject><subject>Codon, Nonsense</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Gallbladder diseases</subject><subject>Genetics</subject><subject>Genotypes</subject><subject>Hepatology</subject><subject>Human health and pathology</subject><subject>Humans</subject><subject>Infant</subject><subject>Insertion</subject><subject>Life Sciences</subject><subject>Liver</subject><subject>Liver Transplantation - statistics & numerical data</subject><subject>Male</subject><subject>Medical prognosis</subject><subject>Mutation</subject><subject>Original</subject><subject>Phospholipids</subject><subject>Prognosis</subject><subject>Prospective Studies</subject><subject>Retrospective Studies</subject><subject>Risk Assessment - methods</subject><subject>Risk Assessment - statistics & numerical data</subject><subject>Survival</subject><subject>Survival Analysis</subject><subject>Treatment Outcome</subject><subject>Young Adult</subject><issn>0270-9139</issn><issn>1527-3350</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><sourceid>EIF</sourceid><sourceid>D8T</sourceid><recordid>eNp1kl1v0zAUhiMEYt3ggj-ALHED0rL5287NpNJ9tFIFSINrK3NOVo80CXaSqf9-DimDTcKyZPuc57w-tt4keUfwCcGYnm6gPWFEafUimRFBVcqYwC-TGaYKpxlh2UFyGMIdxjjjVL9ODhiTUlIlZkm72ra57VBToiuom27XwjG6Bt9v0WdXAZpbV4RjlNcFuu79rbN5NSZc7nfo3A3gg2tqFOeXvItHtB5jIzq4IaKuRperBUHnUDrroLa7N8mrMq8CvN2vR8mPy4vvi2W6_nq1WszXqRVEqBQyIfgNBVwC5lZZSaUFzIpCcK2YVaUinIuIaspAKqo5cG0tZhJooaxlR0k66YZ7aPsb03q3jU2bJndmH_oZd2C4ZJrhyJ9NfMxsobBQdz6vnpQ9zdRuY26bwWguZIZ5FPg0CWyelS3nazPGYm-SUaYHEtmP-8t886uH0JmtCxaqKq-h6YOhPNNcC8ZZRD88Q--a3tfx6wwVko-Dyb-XW9-E4KF87IBgM3rERI-Y3x6J7Pt_X_pI_jFFBE4n4D46YPd_JbO8-DZJPgBx0cRp</recordid><startdate>202108</startdate><enddate>202108</enddate><creator>Wessel, Daan B.E.</creator><creator>Thompson, Richard J.</creator><creator>Gonzales, 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Inc</general><scope>24P</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>7TM</scope><scope>7TO</scope><scope>7U9</scope><scope>H94</scope><scope>K9.</scope><scope>7X8</scope><scope>1XC</scope><scope>5PM</scope><scope>ADTPV</scope><scope>AOWAS</scope><scope>D8T</scope><scope>ZZAVC</scope><orcidid>https://orcid.org/0000-0002-2608-5087</orcidid><orcidid>https://orcid.org/0000-0002-4074-5838</orcidid><orcidid>https://orcid.org/0000-0001-5597-4708</orcidid><orcidid>https://orcid.org/0000-0002-1546-3193</orcidid><orcidid>https://orcid.org/0000-0003-0730-0201</orcidid><orcidid>https://orcid.org/0000-0002-7536-6272</orcidid><orcidid>https://orcid.org/0000-0002-4710-4793</orcidid><orcidid>https://orcid.org/0000-0002-5272-4970</orcidid><orcidid>https://orcid.org/0000-0002-3217-4035</orcidid></search><sort><creationdate>202108</creationdate><title>Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency</title><author>Wessel, Daan B.E. ; Thompson, Richard J. ; Gonzales, Emmanuel ; Jankowska, Irena ; Shneider, Benjamin L. ; Sokal, Etienne ; Grammatikopoulos, Tassos ; Kadaristiana, Agustina ; Jacquemin, Emmanuel ; Spraul, Anne ; Lipiński, Patryk ; Czubkowski, Piotr ; Rock, Nathalie ; Shagrani, Mohammad ; Broering, Dieter ; Algoufi, Talal ; Mazhar, Nejat ; Nicastro, Emanuele ; Kelly, Deirdre ; Nebbia, Gabriella ; Arnell, Henrik ; Fischler, Björn ; Hulscher, Jan B.F. ; Serranti, Daniele ; Arikan, Cigdem ; Debray, Dominique ; Lacaille, Florence ; Goncalves, Cristina ; Hierro, Loreto ; Muñoz Bartolo, Gema ; Mozer‐Glassberg, Yael ; Azaz, Amer ; Brecelj, Jernej ; Dezsőfi, Antal ; Luigi Calvo, Pier ; Krebs‐Schmitt, Dorothee ; Hartleif, Steffen ; Woerd, Wendy L. ; Wang, Jian‐She ; Li, Li‐ting ; Durmaz, Özlem ; Kerkar, Nanda ; Hørby Jørgensen, Marianne ; Fischer, Ryan ; Jimenez‐Rivera, Carolina ; Alam, Seema ; Cananzi, Mara ; Laverdure, Noémie ; Targa Ferreira, Cristina ; Ordonez, Felipe ; Wang, Heng ; Sency, Valerie ; Mo Kim, Kyung ; Chen, Huey‐Ling ; Carvalho, Elisa ; Fabre, Alexandre ; Quintero Bernabeu, Jesus ; Alonso, Estella M. ; Sokol, Ronald J. ; Suchy, Frederick J. ; Loomes, Kathleen M. ; McKiernan, Patrick J. ; Rosenthal, Philip ; Turmelle, Yumirle ; Rao, Girish S. ; Horslen, Simon ; Kamath, Binita M. ; Rogalidou, Maria ; Karnsakul, Wikrom W. ; Hansen, Bettina ; Verkade, Henkjan J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5157-e9554b2e0fe04c7c626ce03dd54873c7f71445515823e67284e48cc036e2d7cc3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Adenosine triphosphatase</topic><topic>Adenosine Triphosphatases - deficiency</topic><topic>Adenosine Triphosphatases - genetics</topic><topic>Adolescent</topic><topic>Age</topic><topic>Bile acids</topic><topic>Bile Acids and Salts - blood</topic><topic>Bile Ducts, Intrahepatic - surgery</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Cholestasis</topic><topic>Cholestasis, Intrahepatic - blood</topic><topic>Cholestasis, Intrahepatic - genetics</topic><topic>Cholestasis, Intrahepatic - mortality</topic><topic>Cholestasis, Intrahepatic - surgery</topic><topic>Codon, Nonsense</topic><topic>Female</topic><topic>Follow-Up Studies</topic><topic>Gallbladder diseases</topic><topic>Genetics</topic><topic>Genotypes</topic><topic>Hepatology</topic><topic>Human health and pathology</topic><topic>Humans</topic><topic>Infant</topic><topic>Insertion</topic><topic>Life Sciences</topic><topic>Liver</topic><topic>Liver Transplantation - statistics & numerical data</topic><topic>Male</topic><topic>Medical prognosis</topic><topic>Mutation</topic><topic>Original</topic><topic>Phospholipids</topic><topic>Prognosis</topic><topic>Prospective Studies</topic><topic>Retrospective Studies</topic><topic>Risk Assessment - methods</topic><topic>Risk Assessment - statistics & numerical data</topic><topic>Survival</topic><topic>Survival Analysis</topic><topic>Treatment Outcome</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wessel, Daan B.E.</creatorcontrib><creatorcontrib>Thompson, Richard J.</creatorcontrib><creatorcontrib>Gonzales, Emmanuel</creatorcontrib><creatorcontrib>Jankowska, Irena</creatorcontrib><creatorcontrib>Shneider, Benjamin L.</creatorcontrib><creatorcontrib>Sokal, Etienne</creatorcontrib><creatorcontrib>Grammatikopoulos, Tassos</creatorcontrib><creatorcontrib>Kadaristiana, Agustina</creatorcontrib><creatorcontrib>Jacquemin, Emmanuel</creatorcontrib><creatorcontrib>Spraul, Anne</creatorcontrib><creatorcontrib>Lipiński, Patryk</creatorcontrib><creatorcontrib>Czubkowski, Piotr</creatorcontrib><creatorcontrib>Rock, Nathalie</creatorcontrib><creatorcontrib>Shagrani, Mohammad</creatorcontrib><creatorcontrib>Broering, Dieter</creatorcontrib><creatorcontrib>Algoufi, Talal</creatorcontrib><creatorcontrib>Mazhar, Nejat</creatorcontrib><creatorcontrib>Nicastro, Emanuele</creatorcontrib><creatorcontrib>Kelly, Deirdre</creatorcontrib><creatorcontrib>Nebbia, Gabriella</creatorcontrib><creatorcontrib>Arnell, Henrik</creatorcontrib><creatorcontrib>Fischler, Björn</creatorcontrib><creatorcontrib>Hulscher, Jan B.F.</creatorcontrib><creatorcontrib>Serranti, Daniele</creatorcontrib><creatorcontrib>Arikan, Cigdem</creatorcontrib><creatorcontrib>Debray, Dominique</creatorcontrib><creatorcontrib>Lacaille, Florence</creatorcontrib><creatorcontrib>Goncalves, Cristina</creatorcontrib><creatorcontrib>Hierro, Loreto</creatorcontrib><creatorcontrib>Muñoz Bartolo, Gema</creatorcontrib><creatorcontrib>Mozer‐Glassberg, Yael</creatorcontrib><creatorcontrib>Azaz, Amer</creatorcontrib><creatorcontrib>Brecelj, Jernej</creatorcontrib><creatorcontrib>Dezsőfi, Antal</creatorcontrib><creatorcontrib>Luigi Calvo, Pier</creatorcontrib><creatorcontrib>Krebs‐Schmitt, Dorothee</creatorcontrib><creatorcontrib>Hartleif, Steffen</creatorcontrib><creatorcontrib>Woerd, Wendy L.</creatorcontrib><creatorcontrib>Wang, Jian‐She</creatorcontrib><creatorcontrib>Li, Li‐ting</creatorcontrib><creatorcontrib>Durmaz, Özlem</creatorcontrib><creatorcontrib>Kerkar, Nanda</creatorcontrib><creatorcontrib>Hørby Jørgensen, Marianne</creatorcontrib><creatorcontrib>Fischer, Ryan</creatorcontrib><creatorcontrib>Jimenez‐Rivera, Carolina</creatorcontrib><creatorcontrib>Alam, Seema</creatorcontrib><creatorcontrib>Cananzi, Mara</creatorcontrib><creatorcontrib>Laverdure, Noémie</creatorcontrib><creatorcontrib>Targa Ferreira, Cristina</creatorcontrib><creatorcontrib>Ordonez, Felipe</creatorcontrib><creatorcontrib>Wang, Heng</creatorcontrib><creatorcontrib>Sency, Valerie</creatorcontrib><creatorcontrib>Mo Kim, Kyung</creatorcontrib><creatorcontrib>Chen, Huey‐Ling</creatorcontrib><creatorcontrib>Carvalho, Elisa</creatorcontrib><creatorcontrib>Fabre, Alexandre</creatorcontrib><creatorcontrib>Quintero Bernabeu, Jesus</creatorcontrib><creatorcontrib>Alonso, Estella M.</creatorcontrib><creatorcontrib>Sokol, Ronald J.</creatorcontrib><creatorcontrib>Suchy, Frederick J.</creatorcontrib><creatorcontrib>Loomes, Kathleen M.</creatorcontrib><creatorcontrib>McKiernan, Patrick J.</creatorcontrib><creatorcontrib>Rosenthal, Philip</creatorcontrib><creatorcontrib>Turmelle, Yumirle</creatorcontrib><creatorcontrib>Rao, Girish S.</creatorcontrib><creatorcontrib>Horslen, Simon</creatorcontrib><creatorcontrib>Kamath, Binita M.</creatorcontrib><creatorcontrib>Rogalidou, Maria</creatorcontrib><creatorcontrib>Karnsakul, Wikrom W.</creatorcontrib><creatorcontrib>Hansen, Bettina</creatorcontrib><creatorcontrib>Verkade, Henkjan J.</creatorcontrib><creatorcontrib>Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium</creatorcontrib><creatorcontrib>on behalf of Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium</creatorcontrib><collection>Wiley-Blackwell Open Access Titles</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><collection>Hyper Article en Ligne (HAL)</collection><collection>PubMed Central (Full Participant titles)</collection><collection>SwePub</collection><collection>SwePub Articles</collection><collection>SWEPUB Freely available online</collection><collection>SwePub Articles full text</collection><jtitle>Hepatology (Baltimore, Md.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wessel, Daan B.E.</au><au>Thompson, Richard J.</au><au>Gonzales, Emmanuel</au><au>Jankowska, Irena</au><au>Shneider, Benjamin L.</au><au>Sokal, Etienne</au><au>Grammatikopoulos, Tassos</au><au>Kadaristiana, Agustina</au><au>Jacquemin, Emmanuel</au><au>Spraul, Anne</au><au>Lipiński, Patryk</au><au>Czubkowski, Piotr</au><au>Rock, Nathalie</au><au>Shagrani, Mohammad</au><au>Broering, Dieter</au><au>Algoufi, Talal</au><au>Mazhar, Nejat</au><au>Nicastro, Emanuele</au><au>Kelly, Deirdre</au><au>Nebbia, Gabriella</au><au>Arnell, Henrik</au><au>Fischler, Björn</au><au>Hulscher, Jan B.F.</au><au>Serranti, Daniele</au><au>Arikan, Cigdem</au><au>Debray, Dominique</au><au>Lacaille, Florence</au><au>Goncalves, Cristina</au><au>Hierro, Loreto</au><au>Muñoz Bartolo, Gema</au><au>Mozer‐Glassberg, Yael</au><au>Azaz, Amer</au><au>Brecelj, Jernej</au><au>Dezsőfi, Antal</au><au>Luigi Calvo, Pier</au><au>Krebs‐Schmitt, Dorothee</au><au>Hartleif, Steffen</au><au>Woerd, Wendy L.</au><au>Wang, Jian‐She</au><au>Li, Li‐ting</au><au>Durmaz, Özlem</au><au>Kerkar, Nanda</au><au>Hørby Jørgensen, Marianne</au><au>Fischer, Ryan</au><au>Jimenez‐Rivera, Carolina</au><au>Alam, Seema</au><au>Cananzi, Mara</au><au>Laverdure, Noémie</au><au>Targa Ferreira, Cristina</au><au>Ordonez, Felipe</au><au>Wang, Heng</au><au>Sency, Valerie</au><au>Mo Kim, Kyung</au><au>Chen, Huey‐Ling</au><au>Carvalho, Elisa</au><au>Fabre, Alexandre</au><au>Quintero Bernabeu, Jesus</au><au>Alonso, Estella M.</au><au>Sokol, Ronald J.</au><au>Suchy, Frederick J.</au><au>Loomes, Kathleen M.</au><au>McKiernan, Patrick J.</au><au>Rosenthal, Philip</au><au>Turmelle, Yumirle</au><au>Rao, Girish S.</au><au>Horslen, Simon</au><au>Kamath, Binita M.</au><au>Rogalidou, Maria</au><au>Karnsakul, Wikrom W.</au><au>Hansen, Bettina</au><au>Verkade, Henkjan J.</au><aucorp>Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium</aucorp><aucorp>on behalf of Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency</atitle><jtitle>Hepatology (Baltimore, Md.)</jtitle><addtitle>Hepatology</addtitle><date>2021-08</date><risdate>2021</risdate><volume>74</volume><issue>2</issue><spage>892</spage><epage>906</epage><pages>892-906</pages><issn>0270-9139</issn><eissn>1527-3350</eissn><abstract>Background and Aims
Mutations in ATPase phospholipid transporting 8B1 (ATP8B1) can lead to familial intrahepatic cholestasis type 1 (FIC1) deficiency, or progressive familial intrahepatic cholestasis type 1. The rarity of FIC1 deficiency has largely prevented a detailed analysis of its natural history, effects of predicted protein truncating mutations (PPTMs), and possible associations of serum bile acid (sBA) concentrations and surgical biliary diversion (SBD) with long‐term outcome. We aimed to provide insights by using the largest genetically defined cohort of patients with FIC1 deficiency to date.
Approach and Results
This multicenter, combined retrospective and prospective study included 130 patients with compound heterozygous or homozygous predicted pathogenic ATP8B1 variants. Patients were categorized according to the number of PPTMs (i.e., splice site, frameshift due to deletion or insertion, nonsense, duplication), FIC1‐A (n = 67; no PPTMs), FIC1‐B (n = 29; one PPTM), or FIC1‐C (n = 34; two PPTMs). Survival analysis showed an overall native liver survival (NLS) of 44% at age 18 years. NLS was comparable among FIC1‐A, FIC1‐B, and FIC1‐C (% NLS at age 10 years: 67%, 41%, and 59%, respectively; P = 0.12), despite FIC1‐C undergoing SBD less often (% SBD at age 10 years: 65%, 57%, and 45%, respectively; P = 0.03). sBAs at presentation were negatively associated with NLS (NLS at age 10 years, sBAs < 194 µmol/L: 49% vs. sBAs ≥ 194 µmol/L: 15%; P = 0.03). SBD decreased sBAs (230 [125‐282] to 74 [11‐177] μmol/L; P = 0.005). SBD (HR 0.55, 95% CI 0.28‐1.03, P = 0.06) and post‐SBD sBA concentrations < 65 μmol/L (P = 0.05) tended to be associated with improved NLS.
Conclusions
Less than half of patients with FIC1 deficiency reach adulthood with native liver. The number of PPTMs did not associate with the natural history or prognosis of FIC1 deficiency. sBA concentrations at initial presentation and after SBD provide limited prognostic information on long‐term NLS.</abstract><cop>United States</cop><pub>Wolters Kluwer Health, Inc</pub><pmid>33666275</pmid><doi>10.1002/hep.31787</doi><tpages>15</tpages><orcidid>https://orcid.org/0000-0002-2608-5087</orcidid><orcidid>https://orcid.org/0000-0002-4074-5838</orcidid><orcidid>https://orcid.org/0000-0001-5597-4708</orcidid><orcidid>https://orcid.org/0000-0002-1546-3193</orcidid><orcidid>https://orcid.org/0000-0003-0730-0201</orcidid><orcidid>https://orcid.org/0000-0002-7536-6272</orcidid><orcidid>https://orcid.org/0000-0002-4710-4793</orcidid><orcidid>https://orcid.org/0000-0002-5272-4970</orcidid><orcidid>https://orcid.org/0000-0002-3217-4035</orcidid><oa>free_for_read</oa></addata></record> |
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| identifier | ISSN: 0270-9139 |
| ispartof | Hepatology (Baltimore, Md.), 2021-08, Vol.74 (2), p.892-906 |
| issn | 0270-9139 1527-3350 |
| language | eng |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; SWEPUB Freely available online |
| subjects | Adenosine triphosphatase Adenosine Triphosphatases - deficiency Adenosine Triphosphatases - genetics Adolescent Age Bile acids Bile Acids and Salts - blood Bile Ducts, Intrahepatic - surgery Child Child, Preschool Cholestasis Cholestasis, Intrahepatic - blood Cholestasis, Intrahepatic - genetics Cholestasis, Intrahepatic - mortality Cholestasis, Intrahepatic - surgery Codon, Nonsense Female Follow-Up Studies Gallbladder diseases Genetics Genotypes Hepatology Human health and pathology Humans Infant Insertion Life Sciences Liver Liver Transplantation - statistics & numerical data Male Medical prognosis Mutation Original Phospholipids Prognosis Prospective Studies Retrospective Studies Risk Assessment - methods Risk Assessment - statistics & numerical data Survival Survival Analysis Treatment Outcome Young Adult |
| title | Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency |
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