Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW , Australia
| Autor: | Kaustuv Bhattacharya, Shanti Balasubramanian, Albert Shun, Carolyn Ellaway, Gordon Thomas, Troy Dalkeith, Noha Elserafy, Michael Stormon, Janine Sawyer, Susan Thompson, Nadia Badawi |
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| Rok vydání: | 2021 |
| Předmět: |
Research Report
Pediatrics medicine.medical_specialty Referral Urea cycle disorder Endocrinology Diabetes and Metabolism medicine.medical_treatment clinical outcome inborn errors of metabolism QH426-470 Liver transplantation survival Biochemistry Genetics and Molecular Biology (miscellaneous) Diseases of the endocrine glands. Clinical endocrinology law.invention law Genetics Internal Medicine medicine Family history metabolic management pre‐ and post‐liver transplantation urea cycle disorder organic acidemia liver transplantation business.industry Medical record Dietary management Research Reports RC648-665 medicine.disease Intensive care unit Organic acidemia business |
| Zdroj: | JIMD Reports, Vol 60, Iss 1, Pp 88-95 (2021) JIMD Reports |
| ISSN: | 2192-8312 |
| DOI: | 10.1002/jmd2.12219 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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