Association between clinical outcome and gene mutation in children with Fanconi anemia / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 742-745, 2016.
Artículo
en Chino
| WPRIM
| ID: wpr-261155
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the association between clinical outcome and gene mutations in children with Fanconi anemia (FA).</p><p><b>METHODS</b>A retrospective analysis was performed for the clinical data of six children with the same severity of FA and receiving the same treatment. At first, single cell gel electrophoresis and chromosome breakage induced by mitomycin C were performed for diagnosis. Then the gene detection kit for congenital bone marrow failure diseases or complementation test was used for genotyping of FA. Finally the association between the clinical outcome at 3, 6, 9, or 12 months after treatment and gene mutation was analyzed.</p><p><b>RESULTS</b>Of all the six FA children, five had FANCA type disease, and one had FANCM type disease; four children carried two or more FA gene mutations. Among the children with the same severity of FA, those with more FA mutations had a younger age of onset and poorer response to medication, and tended to progress to a severe type.</p><p><b>CONCLUSIONS</b>Children carrying more than two FA mutations have a poor clinical outcome, and hematopoietic stem cell transplantation should be performed as soon as possible.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Estudios Retrospectivos
/
Anemia de Fanconi
/
Genética
/
Mutación
Tipo de estudio:
Estudio observacional
/
Factores de riesgo
Límite:
Niño
/
Child, preschool
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2016
Tipo del documento:
Artículo
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