范可尼贫血7例报告及文献复习

发布时间：2018-07-11 14:21

本文选题：范可尼贫血 + 诱因　；参考：《重庆医科大学》2013年硕士论文

【摘要】：目的:范可尼贫血（Fanconi anemia, FA）是一种罕见的常染色体或X染色体隐性遗传病，本文旨在探究范可尼贫血的诱因、临床特点、诊治方法及预后，提高对范可尼贫血的认识。方法:将我院收治的7例范可尼贫血患儿的临床特点、实验室检查及诊治经过，结合国内病例报道及国外诊治进展进行回顾性分析。结果:我院7例患儿发病年龄3至13岁，男6例，女1例。均以全血细胞减少伴先天畸形起病。贫血均呈大细胞性，外周血淋巴细胞比例增高，5例患儿存在胎儿血红蛋白增高，2例患儿就诊时尚未出现骨髓改变，2例患儿符合国际范可尼贫血学术会议提出的诊断标准，其余5例均为临床诊断。住院期间这些患儿仅接受支持及抗感染治疗后好转出院，4例患儿失访，1例患儿死于感染，1例患儿死于出血，1例患儿骨髓衰竭较轻，已随访2月。结论：范可尼贫血的女性患者发病较晚，我国FA患者常见的先天畸形包括内分泌异常、色素沉着、骨骼畸形、耳部畸形、肾脏及生殖系统畸形。本文推测FA患者的骨髓改变是渐进过程，有的发展快，有的发展慢，最终演变成为再生障碍性贫血骨髓象。染色体断裂试验是经典的FA诊断依据，基因检测可从分子遗传学角度诊断FA。迄今为止造血干细胞移植是改善FA造血环境，提高患者长期无病生存率的唯一方法。移植时年龄、输血次数、造血系统衰竭程度、CMV感染、畸形数量、供体性别、雄激素的应用均与预后密切相关。各级医师对FA的认知存在差异，早期诊断困难，加强各级医院及专业检验机构间的合作，将有助于FA的诊治的发展。
[Abstract]:Objective: Fanconi anemia (FA) is a rare autosomal or X chromosome recessive hereditary disease. This article aims to explore the inducement, clinical characteristics, treatment and prognosis of Fanconi anemia, and to improve the understanding of Fanconi anemia. Methods: the clinical characteristics, laboratory examination, diagnosis and treatment of 7 cases of Fanconi anemia in our hospital were analyzed retrospectively, combined with the domestic case report and the progress of diagnosis and treatment abroad. Results: the age of 7 children in our hospital was 3 to 13 years old, 6 male and 1 female. All patients were diagnosed by whole blood cell reduction with congenital malformation. Anemia was large cell in all cases, and the proportion of peripheral blood lymphocytes was increased in 5 cases. 2 cases had no bone marrow changes at the time of treatment. 2 cases were in accordance with the diagnostic criteria proposed by the International Conference on Vankney anemia. The other 5 cases were all clinically diagnosed. During the period of hospitalization, these children only received support and antiinfective therapy, 4 cases of children without treatment, 1 case died of infection, 1 case died of hemorrhage, 1 case died of bone marrow failure, and the follow-up was 2 months. Conclusion: the female patients with Fanconi anemia are late onset. The common congenital malformations of FA patients in China include endocrine abnormalities, pigmentation, bone deformities, ear deformities, kidney and reproductive system deformities. This paper speculated that the bone marrow change of FA patients was a gradual process, some developed quickly, some developed slowly, and finally developed into aplastic anemia bone marrow image. Chromosome breakage test is the classical diagnostic basis for FA, and gene detection can diagnose FAA from the perspective of molecular genetics. So far, hematopoietic stem cell transplantation (HSCT) is the only way to improve FA hematopoietic environment and improve long term disease-free survival rate. Age, number of blood transfusions, degree of hematopoietic failure, CMV infection, number of malformations, donor sex, androgen use were closely related to prognosis. Doctors at all levels have different cognition of FA, and early diagnosis is difficult. Strengthening cooperation between hospitals and professional testing institutions at all levels will contribute to the development of FA diagnosis and treatment.
【学位授予单位】：重庆医科大学
【学位级别】：硕士
【学位授予年份】：2013
【分类号】：R725.5

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