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Diagnosis of Fanconi anemia in children with atypical clinical features： a primary study

Chinese Medical Journal 2013年第23期126卷 4483-4486页

作者： LIU Rong HU Tao LI Jun-hui LIANG Chao GU Wei-yue SHI Xiao-dong WANG Hong-xing Department of Hematology Capital Institute of Pediatrics Beijing 100020 China Beijing Hightrust Diagnostics Beijing 100044 China Joy Orient Translational Medicine Research Center Co. Ltd. Beijing 100088 China Beijing Anding Hospital Capital Medical University Beijing 100088China

Background Fanconi anemia is a severe congenital disorder associated with mutations in a cluster of genes responsible for DNA *** at an accurate and timely diagnosis can be difficult in cases of Fanconi anemia with atypical clinical *** is very important to increase the rate of accurate diagnosis for such cases in a clinical *** purpose of this study is to explore the clinical diagnosis of Fanconi anemia in children with atypical clinical *** Six cases of Fanconi anemia with atypical clinical features were enrolled in the study,and their clinical features were recorded,their FANCA gene transcription was assessed by RT-PCR,and FANCA mutations and the ubiquitination of fancd2 protein were analyzed using DNA sequencing and western blotting *** All six cases showed atypical clinical features including no apparent deformities,lack of response to immune therapy,and progressively increasing bone marrow *** also have significantly increased fetal hemoglobin,negative mitomycin-induced fracture test results,and carry a FANCA gene missense *** protein ubiquitination of fancd2 was not observed in those *** The combination of clinical features,FANCA pathogenic gene mutation genotype and the absence of fancd2 protein ubiquitination are helpful in the accurate and timely diagnosis of Fanconi anemia in children.

关键词： Fanconi anemia clinical features gene mutation fancd2 protein

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