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摘要: 范可尼贫血（Fanconi anemia,FA）是一种罕见的常染色体或X染色体隐性遗传性疾病,其发病率为（1～5）/107,为先天性造血衰竭性疾病中最常见的一种,主要与基因组的不稳定性有关。现已发现22种FA亚型,仅FANCB亚型为X染色体隐性遗传[1]。FA传统上被认为是一种儿科疾病,因文献中报道FA的诊断中位年龄在7岁以下,只有9%的患者发生在成年[2]。FA临床表现异质性明显,主要有骨髓造血衰竭、先天性畸形(如畸形手臂、身材矮小、Abstract: Fanconi anemia(FA) is a rare autosomal or X-linked recessive inheritance disease,which is characterized by progressive bone marrow failure,diversely congenital malformations,and susceptibility to both acute myeloid leukemia and solid tumors.FA proteins participate in the repair of extraordinarily deleterious lesions,interstrand crosslinks,and maintaining genomic stability during DNA replication.Biallelic mutations in FA genes disrupt the FA pathway,which lead to dysfunction of the hematopoietic stem and progenitor cells and susceptibility to acute myeloid leukemia and solid tumors,as well as congenital abnormalities.Usually,the FA laboratory diagnosis relies on chromosomal breakage test,gene mutation analysis and bone marrow chromosome analysis.At present,high throughput second generation sequencing technique is commonly used in clinical practice.To date,researchers have identified 22 FA subtypes.Generally,the FA treatment includes androgen therapy,hematopoietic stem cell transplantation and gene therapy.This review describes the research progress of diagnosis and treatment of FA.
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