Liver transplantation for pediatric metabolic disease

Molecular Genetics and Metabolism - Tập 111 - Trang 418-427 - 2014
George Mazariegos1,2, Benjamin Shneider3, Barbara Burton4, Ira J. Fox1,2,5, Nedim Hadzic6, Priya Kishnani7, D. Holmes Morton8, Sara Mcintire9, Ronald J. Sokol10, Marshall Summar11, Desiree White12, Vincent Chavanon13, Jerry Vockley14,15,16
1Hillman Center for Pediatric Transplantation, Children's Hospital of Pittsburgh of UPMC, Faculty Pavilion, 4401 Penn Avenue, Pittsburgh, PA 15224, USA
2University of Pittsburgh School of Medicine/UPMC Department of Surgery, Thomas E. Starzl Transplantation Institute, E1540 Biomedical Science Tower (BST), 200 Lothrop Street, Pittsburgh, PA 15261, USA
3Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children's Hospital of Pittsburgh of UPMC, Rangos Research Center, 4401 Penn Avenue, 7th Floor, Pittsburgh, PA 15224, USA
4Department of Pediatrics, Northwestern University Feinberg School of Medicine/Ann & Robert H. Lurie Children's Hospital of Chicago, Box MC 59, 225 E Chicago Avenue, Chicago, IL 60611, USA
5McGowan Institute for Regenerative Medicine, University of Pittsburgh, Pittsburgh, PA, USA
6King's College Hospital, Paediatric Liver Center, London, UK
7Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, DUMC 103856, 595 Lasalle Street, GSRB 1, 4th Floor, Room 4010, Durham, NC 27710, USA
8Franklin and Marshall College, Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA
9Department of Pediatrics, Paul C. Gaffney Diagnostic Referral Service, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh of UPMC, 4401 Penn Avenue, Suite Floor 3, Pittsburgh, PA 15224, USA
10Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Section of Gastroenterology, Hepatology and Nutrition, 13123 E. 16th Avenue, B290, Aurora, CO 80045-7106, USA
11Division of Genetics and Metabolism, George Washington University, Children's National Medical Center, Center for Genetic Medicine Research (CGMR), 111 Michigan Avenue, NW, Washington, DC 20010-2970, USA
12Department of Psychology, Washington University, Psychology Building, Room 221, Campus Box 1125, St. Louis, MO 63130-4899, USA
13Division of Plastic and Reconstructive Surgery, Mount Sinai Hospital, 5 East 98th Street, 15th Floor, New York, NY 10029, USA
14Department of Pediatrics, University of Pittsburgh School of Medicine, 4401 Penn Avenue, Pittsburgh, PA, USA
15Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15261, USA
16Division of Medical Genetics, Children's Hospital of Pittsburgh of UPMC, Rangos Research Center, 4401 Penn Avenue, Pittsburgh, PA 15224, USA

Tài liệu tham khảo

Fouquet, 2005, Long-term outcome of pediatric liver transplantation for biliary atresia: a 10-year follow-up in a single center, Liver Transpl., 11, 152, 10.1002/lt.20358 Diem, 2003, Pediatric liver transplantation for biliary atresia: results of primary grafts in 328 recipients, Transplantation, 75, 1692, 10.1097/01.TP.0000062570.83203.A3 Carceller, 2000, Past and future of biliary atresia, J. Pediatr. Surg., 35, 717, 10.1053/jpsu.2000.6034 Shneider, 2011, Trading places: liver transplantation as a treatment, not a cure, for metabolic liver disease, Liver Transplant., 17, 628, 10.1002/lt.22293 Morioka, 2005, Current role of liver transplantation for the treatment of urea cycle disorders: a review of the worldwide English literature and 13 cases at Kyoto University, Liver Transpl., 11, 1332, 10.1002/lt.20587 Hansen, 2008, Metabolic liver disease in children, Liver Transpl., 14, 713, 10.1002/lt.21520 Hansen, 2008, Metabolic liver disease in children, Liver Transpl., 14, 391, 10.1002/lt.21470 Kayler, 2002, Long-term survival after liver transplantation in children with metabolic disorders, Pediatr. Transplant., 6, 295, 10.1034/j.1399-3046.2002.02009.x Kayler, 2003, Liver transplantation in children with metabolic disorders in the United States, Am. J. Transplant., 3, 334, 10.1034/j.1600-6143.2003.00058.x Ng, 2008, Outcomes of 5-year survivors of pediatric liver transplantation: report on 461 children from a North American multicenter registry, Pediatrics, 122, e1128, 10.1542/peds.2008-1363 Stevenson, 2010, Long-term outcome following pediatric liver transplantation for metabolic disorders, Pediatr. Transplant., 14, 268, 10.1111/j.1399-3046.2009.01228.x Zhang, 2007, Liver transplantation for metabolic liver diseases, Clin. Liver Dis., 11, 265, 10.1016/j.cld.2007.04.002 Arnon, 2010, Liver transplantation in children with metabolic diseases: the studies of pediatric liver transplantation experience, Pediatr. Transplant., 14, 796, 10.1111/j.1399-3046.2010.01339.x Vockley, 2008, Metabolism as a complex genetic trait, a systems biology approach: implications for inborn errors of metabolism and clinical diseases, J. Inherit. Metab. Dis., 31, 619, 10.1007/s10545-008-1005-8 Scriver, 1999, Monogenic traits are not simple: lessons from phenylketonuria, Trends Genet., 15, 267, 10.1016/S0168-9525(99)01761-8 Strauss, 2010, Classical maple syrup urine disease and brain development: principles of management and formula design, Mol. Genet. Metab., 99, 333, 10.1016/j.ymgme.2009.12.007 Morton, 2002, Diagnosis and treatment of maple syrup disease: a study of 36 patients, Pediatrics, 109, 999, 10.1542/peds.109.6.999 Strauss, 2006, Elective liver transplantation for the treatment of classical maple syrup urine disease, Am. J. Transplant., 6, 557, 10.1111/j.1600-6143.2005.01209.x Mazariegos, 2012, Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative united network for organ sharing experience, J. Pediatr., 160, 116, 10.1016/j.jpeds.2011.06.033 Shellmer, 2011, Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: a case series, Pediatr. Transplant., 15, 58, 10.1111/j.1399-3046.2010.01411.x Badell, 2013, Domino liver transplantation in maple syrup urine disease: a case report and review of the literature, Transplant. Proc., 45, 806, 10.1016/j.transproceed.2012.04.031 Barshop, 2005, Domino hepatic transplantation in maple syrup urine disease, N. Engl. J. Med., 353, 2410, 10.1056/NEJM200512013532220 Khanna, 2006, Domino liver transplantation in maple syrup urine disease, Liver Transpl., 12, 876, 10.1002/lt.20744 Seminara, 2010, Establishing a consortium for the study of rare diseases: the Urea Cycle Disorders Consortium, Mol. Genet. Metab., 100, S97, 10.1016/j.ymgme.2010.01.014 Haberle, 2012, Suggested guidelines for the diagnosis and management of urea cycle disorders, Orphanet. J. Rare. Dis., 7, 32, 10.1186/1750-1172-7-32 Ah Mew, 2013, Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research, clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ, J. Pediatr., 162, 324, 10.1016/j.jpeds.2012.06.065 Lee, 2007, Mitochondrial hepatopathies: advances in genetics and pathogenesis, Hepatology, 45, 1555, 10.1002/hep.21710 Lee, 2007, Liver disease in mitochondrial disorders, Semin. Liver Dis., 27, 259, 10.1055/s-2007-985071 He, 2007, A new genetic disorder in mitochondrial fatty acid b-oxidation, ACAD9 deficiency, Am. J. Hum. Genet., 81, 87, 10.1086/519219 Wang, 2010, Evidence for physical association of mitochondrial fatty acid oxidation and oxidative phosphorylation complexes, J. Biol. Chem., 285, 29834, 10.1074/jbc.M110.139493 Sokal, 1999, Liver transplantation in mitochondrial respiratory chain disorders, Eur. J. Pediatr., 158, S81, 10.1007/PL00014328 Vu, 2001, Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome?, Hepatology, 34, 116, 10.1053/jhep.2001.25921 Lee, 2013, Mitochondrial hepatopathies: advances in genetics, therapeutic approaches, and outcomes, J. Pediatr., 163, 942, 10.1016/j.jpeds.2013.05.036 Schara, 2011, Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations, J. Inherit. Metab. Dis., 34, 197, 10.1007/s10545-010-9250-z Sass, 2004, Propionic acidemia revisited: a workshop report, Clin. Pediatr. (Phila), 43, 837, 10.1177/000992280404300908 Deodato, 2006, Methylmalonic and propionic aciduria, Am. J. Med. Genet. C: Semin. Med. Genet., 142C, 104, 10.1002/ajmg.c.30090 Rosenblatt, 1992, Vitamin B12 (Cbl)-responsive disorders, J. Nutr. Sci. Vitaminol. (Tokyo), 593, 10.3177/jnsv.38.Special_593 Weisfeld-Adams, 2010, Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte, Mol. Genet. Metab., 99, 116, 10.1016/j.ymgme.2009.09.008 Nagao, 2013, Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation, Mol. Genet. Metab., 108, 25, 10.1016/j.ymgme.2012.10.022 Yorifuji, 2004, Living-donor liver transplantation for propionic acidaemia, J. Inherit. Metab. Dis., 27, 205, 10.1023/B:BOLI.0000028778.54210.13 Vara, 2011, Liver transplantation for propionic acidemia in children, Liver Transpl., 17, 661, 10.1002/lt.22279 Kasahara, 2012, Living-donor liver transplantation for propionic acidemia, Pediatr. Transplant., 16, 230, 10.1111/j.1399-3046.2011.01607.x Mew, 2010, N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia, Pediatrics, 126, e208, 10.1542/peds.2010-0008 Chandler, 2011, Adeno-associated virus serotype 8 gene transfer rescues a neonatal lethal murine model of propionic acidemia, Hum. Gene Ther., 22, 477, 10.1089/hum.2010.164 Filippi, 2010, N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria, Neonatol., 97, 286, 10.1159/000255168 Grunert, 2013, Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients, Orphanet. J. Rare. Dis., 8, 6, 10.1186/1750-1172-8-6 de Mattos, 2000, Nephrotoxicity of immunosuppressive drugs: long-term consequences and challenges for the future, Am. J. Kidney Dis., 35, 333, 10.1016/S0272-6386(00)70348-9 Kishnani, 2010, Glycogen storage disease type III diagnosis and management guidelines, Genet. Med., 12, 446, 10.1097/GIM.0b013e3181e655b6 Koeberl, 2007, Glycogen storage disease types I and II: treatment updates, J. Inherit. Metab. Dis., 30, 159, 10.1007/s10545-007-0519-9 Hicks, 2011, Glycogen storage diseases: a brief review and update on clinical features, genetic abnormalities, pathologic features, and treatment, Ultrastruct. Pathol., 35, 183, 10.3109/01913123.2011.601404 Baertling, 2013, Liver cirrhosis in glycogen storage disease Ib, Mol. Genet. Metab., 108, 198, 10.1016/j.ymgme.2013.01.003 Manzia, 2011, Glycogen storage disease type Ia and VI associated with hepatocellular carcinoma: two case report, Transplant. Proc., 43, 1181, 10.1016/j.transproceed.2011.01.129 Kido, 2013, Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes, J. Hum. Genet., 58, 285, 10.1038/jhg.2013.17 Maheshwari, 2012, Outcomes of liver transplantation for glycogen storage disease: a matched-control study and a review of literature, Clin. Transplant., 26, 432, 10.1111/j.1399-0012.2011.01549.x Muraca, 2005, Liver and liver cell transplantation for glycogen storage disease type IA, Acta Gastroenterol. Belg., 68, 469 Bhattacharya, 2004, The benefits of liver transplantation in glycogenosis type Ib, J. Inherit. Metab. Dis., 27, 539, 10.1023/B:BOLI.0000037400.49488.20 Labrune, 2002, Glycogen storage disease type I: indications for liver and/or kidney transplantation, Eur. J. Pediatr., 161, S53, 10.1007/BF02679995 Marega, 2011, Preemptive liver–kidney transplantation in von Gierke disease: a case report, Transplant. Proc., 43, 1196, 10.1016/j.transproceed.2011.03.003 Muraca, 2002, Hepatocyte transplantation as a treatment for glycogen storage disease type 1a, Lancet, 359, 317, 10.1016/S0140-6736(02)07529-3 Dhawan, 2006, Hepatocyte transplantation for liver-based metabolic disorders, J. Inherit. Metab. Dis., 29, 431, 10.1007/s10545-006-0245-8 Ribes-Koninckx, 2012, Clinical outcome of hepatocyte transplantation in four pediatric patients with inherited metabolic diseases, Cell Transplant., 21, 2267, 10.3727/096368912X637505 Kido, 2013, Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes, J. Hum. Genet., 58, 285, 10.1038/jhg.2013.17 Waisbren, 2007, Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis, Mol. Genet. Metab., 92, 63, 10.1016/j.ymgme.2007.05.006 Waisbren, 2003, Cognitive and behavioral development in maternal phenylketonuria offspring, Pediatrics, 112, 1544, 10.1542/peds.112.S4.1544 Christ, 2010, Executive function in early-treated phenylketonuria: profile and underlying mechanisms, Mol. Genet. Metab., 99, S22, 10.1016/j.ymgme.2009.10.007 Koch, 2002, Phenylketonuria in adulthood: a collaborative study, J. Inherit. Metab. Dis., 25, 333, 10.1023/A:1020158631102 Macdonald, 2011, Nutrition in phenylketonuria, Mol. Genet. Metab., 104, S10, 10.1016/j.ymgme.2011.08.023 Trefz, 2011, Adult phenylketonuria outcome and management, Mol. Genet. Metab., 104, S26, 10.1016/j.ymgme.2011.08.025 Giovannini, 2012, Phenylketonuria: nutritional advances and challenges, Nutr. Metab., 9, 7, 10.1186/1743-7075-9-7 Burton, 2011, Tetrahydrobiopterin therapy for phenylketonuria in infants and young children, J. Pediatr., 158, 410, 10.1016/j.jpeds.2010.08.016 Ding, 2003, State-of-the-art 2003 on PKU gene therapy, Mol. Genet. Metab., 81, 3 Vajro, 1993, Correction of phenylketonuria after liver transplantation in a child with cirrhosis, N. Engl. J. Med., 329, 363, 10.1056/NEJM199307293290517 Harding, 2008, Progress toward cell-directed therapy for phenylketonuria, Clin. Genet., 74, 97, 10.1111/j.1399-0004.2008.01027.x Stephenne, 2012, Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria, Cell Transplant., 21, 2765, 10.3727/096368912X653255 Alexandrova, 2005, Large-scale isolation of human hepatocytes for therapeutic application, Cell Transplant., 14, 845, 10.3727/000000005783982530 Fox, 1998, Treatment of the Crigler–Najjar syndrome type I with hepatocyte transplantation, N. Engl. J. Med., 338, 1422, 10.1056/NEJM199805143382004 Lee, 2007, Hepatocyte transplantation for glycogen storage disease type Ib, Cell Transplant., 16, 629, 10.3727/000000007783465019 Fitzpatrick, 2009, Human hepatocyte transplantation: state of the art, J. Intern. Med., 266, 339, 10.1111/j.1365-2796.2009.02152.x Meyburg, 2009, One liver for four children: first clinical series of liver cell transplantation for severe neonatal urea cycle defects, Transplantation, 87, 636, 10.1097/TP.0b013e318199936a Meyburg, 2009, Liver cell transplantation in children, Clin. Transpl., 23, 75, 10.1111/j.1399-0012.2009.01113.x Meyburg, 2010, Liver, liver cell and stem cell transplantation for the treatment of urea cycle defects, Mol. Genet. Metab., 100, S77, 10.1016/j.ymgme.2010.01.011 Guha, 1999, Amelioration of radiation-induced liver damage in partially hepatectomized rats by hepatocyte, Transplant. Cancer Res., 59, 5871 Sze, 2009, Pediatric liver transplantation for metabolic liver disease: experience at King's College Hospital, Transplantation, 87, 87, 10.1097/TP.0b013e31818bc0c4 Lohlun, 2012, Donor-specific human leukocyte antigen antibodies and late graft fibrosis after pediatric liver transplantation: time-associated variables or cause and effect?, Liver Transpl., 18, 1270, 10.1002/lt.23556 Scheenstra, 2009, Graft fibrosis after pediatric liver transplantation: ten years of follow-up, Hepatology, 49, 880, 10.1002/hep.22686 Magee, 2009, Graft fibrosis in stable pediatric liver transplant recipients: what does it mean?, Hepatology, 49, 726, 10.1002/hep.22864 Soltys, 2007, Late graft loss or death in pediatric liver transplantation: an analysis of the SPLIT database, Am. J. Transplant., 7, 2165, 10.1111/j.1600-6143.2007.01893.x Ng, 2012, Health status of children alive 10 years after pediatric liver transplantation performed in the US and Canada: report of the studies of pediatric liver transplantation experience, J. Pediatr., 160, 820, 10.1016/j.jpeds.2011.10.038 Organ Procurement and Transplantation Network, Policies., in: O.P.a.T. Network (Ed.). McDiarmid, 2007, Liver transplantation for status 1: the consequences of good intentions, Liver Transplant., 13, 699, 10.1002/lt.21125 Soltys, 2010, Barriers to the successful treatment of liver disease by hepatocyte transplantation, J. Hepatol., 53, 769, 10.1016/j.jhep.2010.05.010 Saudubray, 1999, Liver transplantation in propionic acidaemia, Eur. J. Pediatr., 158, S65, 10.1007/PL00014325 Schlenzig, 1995, Liver transplantation in two cases of propionic acidaemia, J. Inherit. Metab. Dis., 18, 448, 10.1007/BF00710056 Kim, 2003, Liver transplantation for propionic acidaemia in a 14-month-old male, Paediatr. Anaesth., 13, 554, 10.1046/j.1460-9592.2003.01104.x Barshes, 2006, Evaluation and management of patients with propionic acidemia undergoing liver transplantation: a comprehensive review, Pediatr. Transplant., 10, 773, 10.1111/j.1399-3046.2006.00569.x Burdelski, 1991, Treatment of inherited metabolic disorders by liver transplantation, J. Inherit. Metab. Dis., 14, 604, 10.1007/BF01797930 Morioka, 2005, Living donor liver transplantation for pediatric patients with inheritable metabolic disorders, Am. J. Transplant., 5, 2754, 10.1111/j.1600-6143.2005.01084.x Yorifuji, 2000, Living-related liver transplantation for neonatal-onset propionic acidemia, J. Pediatr., 137, 572, 10.1067/mpd.2000.108391 Sato, 2009, Liver transplantation in a patient with propionic acidemia requiring extra corporeal membrane oxygenation during severe metabolic decompensation, Pediatr. Transplant., 13, 790, 10.1111/j.1399-3046.2008.01029.x Romano, 2010, Cardiomyopathies in propionic aciduria are reversible after liver transplantation, J. Pediatr., 156, 128, 10.1016/j.jpeds.2009.07.002 Lehnert, 1994, Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients, Eur. J. Pediatr., 153, S68, 10.1007/BF02138781 Manzoni, 2006, Anaesthesia for liver transplantation in two infants with an organic acidaemia, Pediatr. Transplant., 10, 623, 10.1111/j.1399-3046.2006.00536.x Nagarajan, 2005, Management of methylmalonic acidaemia by combined liver–kidney transplantation, J. Inherit. Metab. Dis., 28, 517, 10.1007/s10545-005-0517-8 Chakrapani, 2002, Metabolic stroke in methylmalonic acidemia five years after liver transplantation, J. Pediatr., 140, 261, 10.1067/mpd.2002.121698 van't Hoff, 1999, Liver transplantation for methylmalonic acidaemia, Eur. J. Pediatr., 158, S70, 10.1007/PL00014326 Nyhan, 2002, Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver, Eur. J. Pediatr., 161, 377, 10.1007/s00431-002-0970-4 Kaplan, 1997, Transplantation for maple syrup urine disease (MSUD) and methylmalonic acedemia (MMA), J. Inherit. Metab. Dis. Goyens, 1997, Liver transplantation for methylmalonyl-CoA mutase deficiency, J. Inherit. Metab. Dis. van't Hoff, 1998, Combined liver–kidney transplantation in methylmalonic acidemia, J. Pediatr., 132, 1043, 10.1016/S0022-3476(98)70407-X Hsui, 2003, Living-related liver transplantation for methylmalonic acidemia: report of one case, Acta Paediatr. Taiwan., 44, 171 Kasahara, 2006, Current role of liver transplantation for methylmalonic acidemia: a review of the literature, Pediatr. Transplant., 10, 943, 10.1111/j.1399-3046.2006.00585.x Morioka, 2007, Efficacy of living donor liver transplantation for patients with methylmalonic acidemia, Am. J. Transplant., 7, 2782, 10.1111/j.1600-6143.2007.01986.x