Successful domino liver transplantation in maple syrup urine disease using a related living donor

Autor: Gilda Porta, A.T. Taveira, S.N. Yamaguchi, Flavia H. Feier, Mário M. Kondo, Adriana Porta, Marcel R. Benavides, Irene Miura, Helry L. Candido, Eduardo A. Fonseca, J. Seda Neto, Vera B. Danesi, José Simon Camelo, R. Pugliese, Paulo Chapchap, Teresa Guimarães, Ida Vanessa Doederlein Schwartz, Ana Vitoria Barban Margutti
Rok vydání: 2014
Předmět:
Male
Pathology
Physiology
Genótipo
medicine.medical_treatment
Metabolic disease
Liver transplantation
Biochemistry
Gastroenterology
Maple Syrup Urine Disease
Branched-chain ketoacid dehydrogenase mutation
Living Donors
General Pharmacology
Toxicology and Pharmaceutics
Family history
EXPERIMENTOS CIENTÍFICOS
lcsh:QH301-705.5
Metabolismo
lcsh:R5-920
education.field_of_study
General Neuroscience
General Medicine
Phenotype
Treatment Outcome
Child
Preschool
Heterozygous donor
lcsh:Medicine (General)
congenital
hereditary
and neonatal diseases and abnormalities
medicine.medical_specialty
Genotype
Normal diet
Immunology
Population
Biophysics
Leucina
BCKDHB
Ocean Engineering
BCKDHA
Leucine
Internal medicine
medicine
Humans
Clinical Investigation
Doença
education
business.industry
Maple syrup urine disease
nutritional and metabolic diseases
Sequence Analysis
DNA
Cell Biology
medicine.disease
Heterozigoto
Liver Transplantation
Transplantation
lcsh:Biology (General)
Mutation
business
Amino Acids
Branched-Chain
Zdroj: Brazilian Journal of Medical and Biological Research
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Brazilian Journal of Medical and Biological Research, Vol 47, Iss 6, Pp 522-526 (2014)
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Brazilian Journal of Medical and Biological Research, Volume: 47, Issue: 6, Pages: 522-526, Published: JUN 2014
Brazilian Journal of Medical and Biological Research v.47 n.6 2014
Associação Brasileira de Divulgação Científica (ABDC)
instacron:ABDC
ISSN: 1414-431X
0100-879X
Popis: Maple syrup urine disease (MSUD) is an autosomal recessive disease associated with high levels of branched-chain amino acids. Children with MSUD can present severe neurological damage, but liver transplantation (LT) allows the patient to resume a normal diet and avoid further neurological damage. The use of living related donors has been controversial because parents are obligatory heterozygotes. We report a case of a 2-year-old child with MSUD who underwent a living donor LT. The donor was the patient's mother, and his liver was then used as a domino graft. The postoperative course was uneventful in all three subjects. DNA analysis performed after the transplantation (sequencing of the coding regions of BCKDHA, BCKDHB, and DBT genes) showed that the MSUD patient was heterozygous for a pathogenic mutation in the BCKDHB gene. This mutation was not found in his mother, who is an obligatory carrier for MSUD according to the family history and, as expected, presented both normal clinical phenotype and levels of branched-chain amino acids. In conclusion, our data suggest that the use of a related donor in LT for MSUD was effective, and the liver of the MSUD patient was successfully used in domino transplantation. Routine donor genotyping may not be feasible, because the test is not widely available, and, most importantly, the disease is associated with both the presence of allelic and locus heterogeneity. Further studies with this population of patients are required to expand the use of related donors in MSUD.
Databáze: OpenAIRE
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