红细胞嘧啶5'-核苷酸酶缺乏症4例及文献复习  

Erythrocyte pyrimidine 5-prime-nucleotidase deficiency:4 cases report and literature review

作　　者：赵玉平[1] 张凤奎[1] 竺晓凡[1] 刘建国[1] 徐艳[1] 薄丽津[1] 沈琳[1] 

机构地区：[1]中国医学科学院中国协和医科大学血液学研究所血液病医院,天津300020

出　　处：《临床血液学杂志》2008年第4期359-361,共3页Journal of Clinical Hematology

摘　　要：目的:了解红细胞嘧啶5'-核苷酸酶(P5'N)缺乏症的特点。方法:回顾性分析4例红细胞P5'N缺乏症患者的病历资料,并结合文献进行复习。结果:4例患者中3例为男性,1例女性。年龄范围7个月～33岁,病程7个月～17年。所有患者均有轻度至中度的贫血,均有脾脏肿大,红细胞P5'N活性均低于正常。结论:遗传性P5'N缺乏症是一种少见的遗传性非球形细胞溶血性贫血,本病的血液学特点与其他遗传性非球形细胞溶血性贫血的主要区别在于本病红细胞P5'N活性下降。本病尚无特效治疗措施,目前仍以支持治疗为主。Objectiv： To understand the clinical characteristics of erythrocyte pyrimidine 5-prime-nucleotidase （P5′N） deficiency. Method：The case records of 4 patients with erythrocyte P5′N deficiency were retrospectively studied and the literature about erythrocyte P5′N deficiency was reviewed. Result： Among the 4 patients, 3 were males. The disease course ranged from 7 months to 17 years. All the patients had mild to moderate anemia and splenomegaly. Erythrocyte P5′N deficiency was found in all the patients. Conclusion： Erythrocyte P5′N deficiency is a rare hereditary non-spherocytic hemolytic anemia. Its major characteristic is the erythrocyte P5′N deficiency. So far, no special effective management is available.

关 键 词：溶血性贫血 嘧啶5′-核苷酸酶 红细胞 

分 类 号：R556[医药卫生—血液循环系统疾病]