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Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia

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...

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Autores principales: Elserafy, Noha, Thompson, Sue, Dalkeith, Troy, Stormon, Michael, Thomas, Gordon, Shun, Albert, Sawyer, Janine, Balasubramanian, Shanti, Bhattacharya, Kaustuv, Badawi, Nadia, Ellaway, Carolyn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8260479/
https://www.ncbi.nlm.nih.gov/pubmed/34258144
http://dx.doi.org/10.1002/jmd2.12219
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author Elserafy, Noha
Thompson, Sue
Dalkeith, Troy
Stormon, Michael
Thomas, Gordon
Shun, Albert
Sawyer, Janine
Balasubramanian, Shanti
Bhattacharya, Kaustuv
Badawi, Nadia
Ellaway, Carolyn
author_facet Elserafy, Noha
Thompson, Sue
Dalkeith, Troy
Stormon, Michael
Thomas, Gordon
Shun, Albert
Sawyer, Janine
Balasubramanian, Shanti
Bhattacharya, Kaustuv
Badawi, Nadia
Ellaway, Carolyn
author_sort Elserafy, Noha
collection PubMed
description 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: 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: 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: 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: 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.
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spelling pubmed-82604792021-07-12 Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia Elserafy, Noha Thompson, Sue Dalkeith, Troy Stormon, Michael Thomas, Gordon Shun, Albert Sawyer, Janine Balasubramanian, Shanti Bhattacharya, Kaustuv Badawi, Nadia Ellaway, Carolyn JIMD Rep Research Reports 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: 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: 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: 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: 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. John Wiley & Sons, Inc. 2021-05-04 /pmc/articles/PMC8260479/ /pubmed/34258144 http://dx.doi.org/10.1002/jmd2.12219 Text en © 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Reports
Elserafy, Noha
Thompson, Sue
Dalkeith, Troy
Stormon, Michael
Thomas, Gordon
Shun, Albert
Sawyer, Janine
Balasubramanian, Shanti
Bhattacharya, Kaustuv
Badawi, Nadia
Ellaway, Carolyn
Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia
title Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia
title_full Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia
title_fullStr Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia
title_full_unstemmed Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia
title_short Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia
title_sort liver transplantation in children with inborn errors of metabolism: 30 years experience in nsw, australia
topic Research Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8260479/
https://www.ncbi.nlm.nih.gov/pubmed/34258144
http://dx.doi.org/10.1002/jmd2.12219
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