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.
Artigo
em Chinês
| 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Estudos Retrospectivos
/
Anemia de Fanconi
/
Genética
/
Mutação
Tipo de estudo:
Estudo observacional
/
Fatores de risco
Limite:
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2016
Tipo de documento:
Artigo
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