Genotype correlates with the natural history of severe bile salt export pump deficiency

Autor: van Wessel, Daan B E, Thompson, Richard J, Gonzales, Emmanuel, Jankowska, Irena, 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 A, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, Jan B F, Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Sturm, Ekkehard, van der Woerd, Wendy J, Kamath, Binita M, Wang, Jian-She, Li, Liting, Durmaz, Özlem, Onal, Zerrin, Bunt, Ton M G, Hansen, Bettina E, Verkade, Henkjan J, NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) consortium
Přispěvatelé: Center for Liver, Digestive and Metabolic Diseases (CLDM), Lifestyle Medicine (LM), UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique
Jazyk: angličtina
Předmět:
0301 basic medicine
Male
LIVER
Surgical biliary diversion
CHILDREN
Gastroenterology
Severity of Illness Index
PFIC2
Liver disease
0302 clinical medicine
Genotype
ABCB11
ATP Binding Cassette Transporter
Subfamily B
Member 11
OUTCOMES
ddc:618
Bile acid
Liver Neoplasms
Prognosis
Biliary Tract Surgical Procedures
BSEP
Child
Preschool
Cohort
SURGICAL-MANAGEMENT
030211 gastroenterology & hepatology
Female
EXPRESSION
Adult
medicine.medical_specialty
Carcinoma
Hepatocellular
medicine.drug_class
Natural history
Cholestasis
Intrahepatic
Time
Bile Acids and Salts
03 medical and health sciences
TYPE-2
FAMILIAL INTRAHEPATIC CHOLESTASIS
Cholestasis
Predictive Value of Tests
Internal medicine
medicine
ABCB11 MUTATIONS
Humans
Genetic Testing
EXTERNAL BILIARY DIVERSION
Severe BSEP deficiency
Retrospective Studies
Hepatology
business.industry
Retrospective cohort study
medicine.disease
Bile Salt Export Pump
Survival Analysis
030104 developmental biology
Mutation
business
Zdroj: Journal of hepatology, Vol. 73, No 1 (2020) pp. 84-93
Journal of Hepatology, 73(1), 84-93. ELSEVIER SCIENCE BV
Journal of Hepatology, (2020)
Journal of Hepatology, Vol. 73, no. 1, p. 84-93 (2020)
ISSN: 0168-8278
DOI: 10.1016/j.jhep.2020.02.007
Popis: Background & Aims: Mutations in ABCB11 can cause deficiency of the bile salt export pump (BSEP), leading to cholestasis and end-stage liver disease. Owing to the rarity of the disease, the associations between genotype and natural history, or outcomes following surgical biliary diversion (SBD), remain elusive. We aimed to determine these associations by assembling the largest genetically defined cohort of patients with severe BSEP deficiency to date. Methods: This multicentre, retrospective cohort study included 264 patients with homozygous or compound heterozygous pathological ABCB11 mutations. Patients were categorized according to genotypic severity (BSEP1, BSEP2, BSEP3). The predicted residual BSEP transport function decreased with each category. Results: Genotype severity was strongly associated with native liver survival (NLS, BSEP1 median 20.4 years; BSEP2, 7.0 years; BSEP3, 3.5 years; p
Databáze: OpenAIRE
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