Liver transplantation for classical maple syrup urine disease: long-term follow-up.
J Pediatr Gastroenterol Nutr
; 59(5): 636-9, 2014 Nov.
Article
em En
| MEDLINE
| ID: mdl-24979318
OBJECTIVES: The aim of the study was to evaluate indications, results, and clinical and neurological evolution in children who have undergone liver transplantation for classical maple syrup urine disease (MSUD). METHODS: Descriptive study of liver transplantation for MSUD between 1991 and 2012. Eight patients were transplanted. RESULTS: Indications for transplant were poor metabolic control expressed as significant psychomotor disabilities (4 had psychomotor delays, 5 had spasticity, and 5 had epilepsy) and poor quality of life (mean number of acute metabolic decompensations and mean number of total hospitalizations before transplantation 5 and 12, respectively). Four required nasogastric tube, with a maximum 4 g/day protein-restricted diet in all of them. Seven sustained significant alterations in brain magnetic resonance imaging. Mean leucine and alloisoleucine levels were 608 (standard deviation [SD] 516) and 218 µmol/L (SD 216), respectively. All of the patients received transplants with deceased-donor livers, with ages between 1.5 and 2.5 years (mean 1.78 years). Mean posttransplantation follow-up period was 12.2 years (range 5-21 years). Final patient and graft survival was 87.5% and 75%, respectively. Following transplantation, none required hospitalization in the last 3 years nor did any have new acute metabolic decompensations following a normal diet. Five followed normal schooling, 2 had motor disabilities, and 2 had convulsive crises. Brain magnetic resonance imaging was taken in 4 patients, showing neuroimage improvement in 3 of them. Mean leucine levels were <350 µmol/L from the immediate posttransplantation period (mean 225 µmol/L, SD 78), with a maximum alloisoleucine level of 20 µmol/L. CONCLUSIONS: Liver transplantation is an effective treatment for classical MSUD that arrests brain damage, although it does not reverse the process.
Texto completo:
1
Coleções:
01-internacional
Contexto em Saúde:
2_ODS3
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6_ODS3_enfermedades_notrasmisibles
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7_ODS3_muertes_prevenibles_nacidos_ninos
Base de dados:
MEDLINE
Assunto principal:
Encéfalo
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Transplante de Fígado
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Sobrevivência de Enxerto
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Doença da Urina de Xarope de Bordo
Tipo de estudo:
Observational_studies
/
Prognostic_studies
Aspecto:
Patient_preference
Limite:
Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
J Pediatr Gastroenterol Nutr
Ano de publicação:
2014
Tipo de documento:
Article