Liver disease and transplantation in telomere biology disorders: An international multicenter cohort.

Autor:	Wang YM; Division of Bone Marrow Transplantation and Immune Deficiency, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Kaj-Carbaidwala B; Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Lurie Children's Hospital, Chicago, Illinois, USA., Lane A; Division of Bone Marrow Transplantation and Immune Deficiency, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Agarwal S; Department of Pediatrics, Division of Hematology/Oncology, Boston Children's Hospital, Boston, Massachusetts, USA., Beier F; Department of Hematology and Oncology, University Klinik Aachen, Aachen, Germany., Bertuch A; Department of Pediatric Hematology-Oncology, Texas Children's Hospital, Houston, Texas, USA., Borovsky KA; Department of Gastroenterology, Hepatology, and Nutrition, Texas Children's Hospital, Houston, Texas, USA., Brennan SK; Department of Pediatrics, Division of Allergy and Pulmonary Medicine, Washington University in St. Louis, St. Louis, Missouri, USA., Calado RT; Department of Hematology and Oncology, University of Sao Paulo, Sao Paulo, Brazil., Catto LFB; Department of Hematology and Oncology, University of Sao Paulo, Sao Paulo, Brazil., Dufour C; Hematology Unit. IRCCS Istituto Giannina Gaslini, Genoa, Italy., Ebens CL; Division of Pediatric Blood and Marrow Transplant & Cellular Therapy, University of Minnesota, Minneapolis, MN, USA., Fioredda F; Department of Hematology, Giannina Gaslini Institute, Genoa, Italy., Giri N; Department of Pediatrics, Clinical Genetics Branch, National Cancer Institute, Bethesda, Maryland, USA., Gloude N; Division of Pediatric Hematology/Oncology, Department of Pediatrics, Rady Children's Hospital San Diego, San Diego, California, USA., Goldman F; Division of Pediatric Hematology and Oncology, Department of Pediatrics, University of Alabama Birmingham, Birmingham, Alabama, USA., Hertel PM; Department of Gastroenterology, Hepatology, and Nutrition, Texas Children's Hospital, Houston, Texas, USA., Himes R; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Ochsner Health, New Orleans, Louisiana, USA., Keel SB; Department of Hematology, University of Washington, Seattle, Washington, USA., Koura DT; Division of Hematology-Oncology and Bone Marrow Transplantation, Department of Medicine, University of California, San Diego, San Diego, California, USA., Kratz CP; Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany., Kulkarni S; Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Washington University in St. Louis, St. Louis, Missouri, USA., Liou I; Division of Gastroenterology, Department of Medicine, University of Washington, Seattle, Washington, USA., Nakano TA; Center for Cancer and Blood Disorders, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA., Nastasio S; Department of Gastroenterology/Hepatology, Boston Children's Hospital, Boston, Massachusetts, USA., Niewisch MR; Department of Hematology, Giannina Gaslini Institute, Genoa, Italy.; Division of Hematology-Oncology and Bone Marrow Transplantation, Department of Medicine, University of California, San Diego, San Diego, California, USA., Penrice DD; Department of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA., Sasa GS; Sarah Cannon Transplant and Cellular Therapy Network, San Antonio, Texas, USA., Savage SA; Department of Hematology, Giannina Gaslini Institute, Genoa, Italy., Simonetto DA; Department of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA., Ziegler DS; School of Clinical Medicine, UNSW Medicine & Health, UNSW Sydney, Kensington, NSW, Australia.; Kids Cancer Centre, Sydney Children's Hospital, Randwick, NSW, Australia., Miethke AG; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Myers KC; Division of Bone Marrow Transplantation and Immune Deficiency, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Jazyk:	angličtina
Zdroj:	Hepatology communications [Hepatol Commun] 2024 Jun 19; Vol. 8 (7). Date of Electronic Publication: 2024 Jun 19 (Print Publication: 2024).
DOI:	10.1097/HC9.0000000000000462
Abstrakt:	Background: Patients with telomere biology disorders (TBD) develop hepatic disease, including hepatitis, cirrhosis, and hepatopulmonary syndrome. No specific treatment exists for TBD-related liver disease, and the role of liver transplantation (LT) remains controversial. Our study objectives were to describe the clinical characteristics, management, and outcomes in patients with TBD-related liver disease, and their LT outcomes. Methods: Data from 83 patients with TBD-associated liver disease were obtained from 17 participating centers in the Clinical Care Consortium of Telomere-Associated Ailments and by self-report for our retrospective, multicenter, international cohort study. Results: Group A ("Advanced") included 40 patients with advanced liver disease. Of these, 20 underwent LT (Group AT). Group M ("Mild") included 43 patients not warranting LT evaluation, none of whom were felt to be medically unfit for liver transplantation. Supplemental oxygen requirement, pulmonary arteriovenous malformation, hepatopulmonary syndrome, and higher bilirubin and international normalized ratio values were associated with Group A. Other demographics, clinical manifestations, and laboratory findings were similar between groups. Six group A patients were declined for LT; 3 died on the waitlist. Median follow-up post-LT was 2.9 years (range 0.6-13.2 y). One-year survival post-LT was 73%. Median survival post-LT has not been reached. Group AT patients had improved survival by age compared to all nontransplant patients (log-rank test p = 0.02). Of 14 patients with pretransplant hypoxemia, 8 (57%) had improved oxygenation after transplant. Conclusions: LT recipients with TBD do not exhibit excessive posttransplant mortality, and LT improved respiratory status in 57%. A TBD diagnosis should not exclude LT consideration. (Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Association for the Study of Liver Diseases.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu