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Association between clinical outcome and gene mutation in children with Fanconi anemia / 中国当代儿科杂志
Article in Chinese | WPRIM | ID: wpr-261155
Responsible library: WPRO
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>
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Female / Humans / Male / Child / Child, Preschool / Retrospective Studies / Fanconi Anemia / Genetics / Mutation Language: Chinese Journal: Chinese Journal of Contemporary Pediatrics Year: 2016 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Female / Humans / Male / Child / Child, Preschool / Retrospective Studies / Fanconi Anemia / Genetics / Mutation Language: Chinese Journal: Chinese Journal of Contemporary Pediatrics Year: 2016 Type: Article