范可尼贫血的研究进展与国际诊断标准  

Research Progress and International Diagnostic Criteria for Fanconi Anemia

作　　者：吴占河 葛志红 

机构地区：[1]澳大利亚皇家亚历山大儿童医院西悉尼基因组诊断实验室,澳大利亚999029 [2]广州中医药大学第二附属医院,广州510120

出　　处：《现代检验医学杂志》2013年第6期1-6,共6页Journal of Modern Laboratory Medicine

摘　　要：范可尼贫血是常染色体隐性遗传性疾病（除B亚型外，X-性连锁）。临床表现为多样化的型体及智力发育异常，多种肿瘤高发倾向，进行性骨髓衰竭以及多种脏器受累。范可尼贫血的研究是医学研究当中发展最快的领域之一。迄今为止，15个不同的互补亚型被鉴别，这15个突变的基因已被定位于不同的染色体住点上。以发病机理、诊断技术、治疗为主的探索性研究日益深入，因此极大地推动了基础研究和临床诊断与治疗进展，同时也为癌症和老化方面的研究带来极大的有意义的启发。由于范可尼贫血患者大多是在发生骨髓衰竭或合并为肿瘤的晚期才为就诊的原因，所以被称之为不治之症。包括从产前开始的早期诊断，早期治疗延长生命非常重要。也由于该病的基因型及临床表型相当复杂，缺乏明显特征，所以给早期诊断带来困难与挑战。同时也要求医务人员具有血液、遗传及肿瘤等多方面的综合知识。该文将对范可尼贫血的新的概念、临床诊断、实验室检测策略等一些相关问题进行讨论，希望对国内开展此方面的工作有些帮助。Fanconi anemia （FA） is characterised with multiple gene mutations,multiple types of genetic abnormalities, multi- ple organ involvements and multiple types of cancer risks. Research on FA is one of the fastest areas in medical research field. The identification of 15 different FA genes and the elucidation of the FA molecular pathways have translated into the understanding of the pathogenic mechanism and practically provided the directions for therapies. Studies on FA rendered in- valuable information for the studies on cancers because FA possesses the unique features in many different biological as- pects. Studies revealed the genetic linking between FA and cancers tb.at FA genes are in cancers and cancers genes are in FA. As a result,FA is named as a paradigmatic disease for the understanding of cancer and aging. In clinical practice,an early and accurate diagnosis of FA before the stage of bone marrow failure,cancer/leukemia is crucial for the adequate treatment,the prevention of serious medical complications and also for the properly management in the other caring areas including paedia- tric, hematology, immunology, endocrinology, reproductive/IVF, obstetrics and surgery. However, an early and accurate diag- nosis for FA is often difficult because FA is genetically and phenotypically heterogeneous disease. Diagnosis in more or less cases can be delayed until bone marrow failure or cancer/leukemia occurs. As a result that delayed or misdiagnosis even wrong treatment received for patients with FA are not uncommon events clinically in some regions or countries due to the lack of recognition of FA from the clinicians and the limitation in testing resource in laboratory. In this review,the new con- cept, brief clinical characteristics, research advancing, the current boratory testing issues and strategies on FA are discussed. international diagnostic guidelines/differential diagnosis, laboratory testing issues and strategies on FA are discussed.

关 键 词：范可尼贫血 骨髓衰竭综合征 染色体不稳定综合征 肿瘤高发 

分 类 号：R556[医药卫生—血液循环系统疾病]