Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia.
clinical outcome
inborn errors of metabolism
liver transplantation
metabolic management pre‐ and post‐liver transplantation
organic acidemia
survival
urea cycle disorder
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Jul 2021
Jul 2021
Historique:
received:
28
10
2020
revised:
01
04
2021
accepted:
06
04
2021
entrez:
14
7
2021
pubmed:
15
7
2021
medline:
15
7
2021
Statut:
epublish
Résumé
Inborn errors of metabolism (IEM) are a diverse group of genetic disorders that can result in significant morbidity and sometimes death. Metabolic management can be challenging and burdensome for families. Liver transplantation (LT) is increasingly being considered a treatment option for some IEMs. IEMs are now considered the second most common reason for pediatric LT. To review the data of all children with an IEM who had LT at The Children's Hospital at Westmead (CHW), NSW, Australia between January 1986 and January 2019. Retrospective data collected from the medical records and genetic files included patient demographics, family history, parental consanguinity, method of diagnosis of IEM, hospital and intensive care unit admissions, age at LT, graft type, clinical outcomes and metabolic management pre and post-LT. Twenty-four LT were performed for 21 patients. IEM diagnoses were MSUD (n = 4), UCD (n = 8), OA (n = 6), TYR type I (n = 2) and GSD Ia (n = 1). Three patients had repeat transplants due to complications. Median age at transplant was 6.21 years (MSUD), 0.87 years (UCD), 1.64 years (OA) and 2.2 years (TYR I). Two patients died peri-operatively early in the series, one died 3 months after successful LT due to septicemia. Eighteen LTs have been performed since 2008 in comparison to six LT prior to 2008. Dietary management was liberalized post LT for all patients. Referral for LT for IEMs has increased over the last 33 years, with the most referrals in the last 10 years. Early LT has resulted in improved clinical outcomes and patient survival.
Sections du résumé
BACKGROUND
BACKGROUND
Inborn errors of metabolism (IEM) are a diverse group of genetic disorders that can result in significant morbidity and sometimes death. Metabolic management can be challenging and burdensome for families. Liver transplantation (LT) is increasingly being considered a treatment option for some IEMs. IEMs are now considered the second most common reason for pediatric LT.
AIM
OBJECTIVE
To review the data of all children with an IEM who had LT at The Children's Hospital at Westmead (CHW), NSW, Australia between January 1986 and January 2019.
METHODS
METHODS
Retrospective data collected from the medical records and genetic files included patient demographics, family history, parental consanguinity, method of diagnosis of IEM, hospital and intensive care unit admissions, age at LT, graft type, clinical outcomes and metabolic management pre and post-LT.
RESULTS
RESULTS
Twenty-four LT were performed for 21 patients. IEM diagnoses were MSUD (n = 4), UCD (n = 8), OA (n = 6), TYR type I (n = 2) and GSD Ia (n = 1). Three patients had repeat transplants due to complications. Median age at transplant was 6.21 years (MSUD), 0.87 years (UCD), 1.64 years (OA) and 2.2 years (TYR I). Two patients died peri-operatively early in the series, one died 3 months after successful LT due to septicemia. Eighteen LTs have been performed since 2008 in comparison to six LT prior to 2008. Dietary management was liberalized post LT for all patients.
CONCLUSIONS
CONCLUSIONS
Referral for LT for IEMs has increased over the last 33 years, with the most referrals in the last 10 years. Early LT has resulted in improved clinical outcomes and patient survival.
Identifiants
pubmed: 34258144
doi: 10.1002/jmd2.12219
pii: JMD212219
pmc: PMC8260479
doi:
Types de publication
Journal Article
Langues
eng
Pagination
88-95Informations de copyright
© 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
Noha Elserafy, Sue Thompson, Michael Stormon, Gordon Thomas, Albert Shun, Janine Sawyer, Shanti Balasubramaniam, Toy Dalkeith, Kaustuv Bhattacharya, Nadia Badawi and Carolyn Ellaway declare that they have no conflict of interest.
Références
Mol Genet Metab. 2013 Jan;108(1):25-9
pubmed: 23151386
Pediatr Transplant. 2010 Sep 1;14(6):796-805
pubmed: 20557477
Radiographics. 2017 Oct;37(6):1612-1631
pubmed: 29019744
J Pediatr. 2015 Jun;166(6):1346-50
pubmed: 25882873
Semin Pediatr Surg. 2017 Aug;26(4):193-198
pubmed: 28964473
Ther Apher Dial. 2011 Oct;15(5):488-92
pubmed: 21974703
Ann Transplant. 2017 Sep 15;22:555-562
pubmed: 28912414
J Pediatr Gastroenterol Nutr. 2014 Nov;59(5):636-9
pubmed: 24979318
Pediatr Transplant. 2014 Aug;18(5):423-34
pubmed: 25041330
Clin Perinatol. 2015 Jun;42(2):413-39, x
pubmed: 26042912
Pediatr Clin North Am. 2018 Apr;65(2):179-208
pubmed: 29502909
Pediatr Transplant. 2016 Sep;20(6):756-69
pubmed: 27329540
Pediatr Transplant. 2017 Jun;21(4):
pubmed: 28332273
Mol Genet Metab. 2014 Apr;111(4):418-27
pubmed: 24495602
Adv Clin Chem. 2016;73:195-250
pubmed: 26975974
Orphanet J Rare Dis. 2019 Apr 2;14(1):73
pubmed: 30940196
Liver Transpl. 2018 Sep;24(9):1260-1270
pubmed: 30080956
Liver Transpl. 2018 Dec;24(12):1736-1745
pubmed: 30242960
Transplant Proc. 2011 Apr;43(3):896-900
pubmed: 21486623
Liver Transpl. 2014 Jan;20(1):89-99
pubmed: 24136671
Pediatr Transplant. 2018 May;22(3):e13156
pubmed: 29380468
Pediatr Transplant. 2014 Feb;18(1):6-15
pubmed: 24283623
Pediatr Transplant. 2013 Mar;17(2):158-67
pubmed: 23347504
Pediatr Surg Int. 2016 May;32(5):439-49
pubmed: 27001031
J Pediatr. 2012 Jan;160(1):116-21.e1
pubmed: 21839471