Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders.
Pediatr Transplant
; 21(6)2017 Sep.
Article
en En
| MEDLINE
| ID: mdl-28608518
ABSTRACT
UCDs are among the most common inherited metabolic diseases in Japan. We investigated the clinical manifestations, treatment, and prognoses of 177 patients with UCDs who were evaluated and treated from January 1999 to March 2009 in Japan, using a questionnaire survey. Among these 177 patients, 42 (seven with carbamoyl phosphate synthetase 1 deficiency, 27 with ornithine transcarbamylase deficiency, seven with argininosuccinate synthetase deficiency, and one with arginase 1 deficiency) underwent living-donor LT. Although this study was retrospective and included limited neurodevelopmental information before and after LT, we evaluated whether LT could improve neurodevelopmental outcomes in patients with UCDs. The neurodevelopmental outcomes of patients with a MAC of <300 µmol/L at the time of onset were not significantly different between the LT and non-LT groups (P=.222). LT may have prevented further neurodevelopmental complications in children with MAC ≥300 µmol/L (P=.008) compared with non-transplant management. Therefore, Liver transplant should be considered in patients with UCD with a MAC of ≥300 µmol/L at the time of disease onset.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Discapacidades del Desarrollo
/
Trasplante de Hígado
/
Trastornos Innatos del Ciclo de la Urea
/
Enfermedades del Sistema Nervioso
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
País/Región como asunto:
Asia
Idioma:
En
Revista:
Pediatr Transplant
Asunto de la revista:
PEDIATRIA
/
TRANSPLANTE
Año:
2017
Tipo del documento:
Article
País de afiliación:
Japón