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

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

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Título Successful domino liver transplantation in maple syrup urine disease using a related living donor
Autor Feier, Flávia Heinz
Miura, Irene Kazue
Fonseca, E. A.
Porta, Gilda
Pugliese, R.
Porta, A.
Schwartz, Ida Vanessa Doederlein
Margutti, A. V. B.
Camelo Júnior, José Simon
Yamaguchi, S. N.
Taveira, A. T.
Candido, H.
Benavides, M.
Danesi, V.
Guimarães, T.
Kondo, M.
Chapchap, Paulo
Seda Neto, João
Abstract 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.
Contido em Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas. Ribeirão Preto. Vol. 47, n. 6 (June 2014), p. 522-526
Assunto Doença
Genótipo
Heterozigoto
Leucina
Metabolismo
[en] Branched-chain ketoacid dehydrogenase mutation
[en] Genotype
[en] Heterozygous donor
[en] Leucine
[en] Metabolic disease
Origem Nacional
Tipo Artigo de periódico
URI http://hdl.handle.net/10183/118108
Arquivos Descrição Formato
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