PDF(Pubmed)
Abstract：
Fanconi anemia (FA) is an autosomal recessive disorder, both genetically and phenotypically. It is characterized by chromosomal instability, progressive bone marrow failure, susceptibility to cancer, and various other congenital abnormalities. It involves all the three cell lines of blood. So far, biallelic mutations in 21 genes and one x-linked gene have been detected and found to be associated with FA phenotype. Signs and symptoms start setting in by the age of 4 to 7 years, mainly hematological symptoms. This includes pancytopenia, that is, a reduction in the number of white blood cells (WBCs), red blood cells (RBCs), and platelets. Therefore, the main criteria for diagnosis of FA include skeletal malformations, pancytopenia, hyperpigmentation, short stature, urogenital abnormalities, central nervous system, auditory, renal, ocular, and familial occurrence. Patients showing signs and symptoms of FA should be thoroughly evaluated. A complete blood count will reveal a reduced number of RBC, WBC, and platelets, that is, pancytopenia. Chromosomal breakage study/stress cytogenetics should be done in patients with severe pancytopenia. Momentousness timely diagnosis of current disease, prenatal diagnosis, and genetic counseling should be emphasized.
摘要：
范可尼贫血（FA）是一种常染色体隐性遗传疾病，遗传和表型。它的特点是染色体不稳定，进行性骨髓衰竭,对癌症的易感性，和其他各种先天性异常。它涉及血液的所有三种细胞系。到目前为止,已检测到21个基因和1个X连锁基因的双等位基因突变,发现其与FA表型相关.体征和症状在4至7岁时开始出现，主要是血液学症状。这包括全血细胞减少症,也就是说,白细胞（WBC）数量的减少，红细胞（RBC），和血小板。因此,诊断FA的主要标准包括骨骼畸形，全血细胞减少症,色素沉着过度,身材矮小,泌尿生殖系统异常,中枢神经系统,听觉,肾,眼,家族性事件。应彻底评估显示FA体征和症状的患者。全血细胞计数将显示红细胞数量减少，WBC,和血小板,也就是说,全血细胞减少症.严重全血细胞减少症患者应进行染色体断裂/应激细胞遗传学研究。时刻及时诊断当前的疾病，产前诊断,应该强调遗传咨询。
