红细胞嘧啶5’-核苷酸酶缺乏症9例并文献复习  

Erythrocyte pyrimidine 5'-nucleotidase deficiency: 9 cases report and literature review

作　　者：李大鹏[1] 姜波[1] 赵玉平[1] 许剑辉[1] 张凤奎[1] 郑以州[1] 竺晓凡[1] 薛艳萍[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急诊科,天津300020

出　　处：《临床血液学杂志》2012年第6期712-714,共3页Journal of Clinical Hematology

摘　　要：目的:探讨红细胞嘧啶5’-核苷酸酶(P5’N)缺乏症患者的临床特征、实验室检查特点、治疗方法。方法:回顾性分析9例P5’N缺乏症患者的临床资料和实验室检查特点并复习相关文献。结果:9例患者均有不同程度贫血,其他症状包括:脾大7例,黄疸6例,胆石症2例,肝大1例。2例患者并发β-地中海贫血,1例并发丙酮酸激酶(PK)缺乏。4例可分析病例中2例患者的母亲同时存在P5’N缺乏。4例患者需要输血治疗。结论:遗传性P5’N缺乏症特点是红细胞P5’N活性下降,外周血可见嗜碱性点彩红细胞。获得性P5’N缺乏症可见于β-地中海贫血等疾病。Objective：To clarify the clinical and experimental characteristics of erythrocyte pyrimidine 5＇-nu cleotidase（P5＇ N）deficiency. Method： Nine patients with P5 ＇N deficiency were retrospectively analyzed and related literatures were reviewed. Result： All of the patients had anemia. The concomitant symptoms including splenomega ly in 7 patients,jaundice in 6 patients, cholelithiasis in 2 patients and hepatomegaly in 1 patient. Two patients were complicated with 13 thalassaemia trait. One patient was associated with pyruvate kinase（PK）deficiency. In 2 of 4 as sessable patients,PS＇N deficiency in first-degree relatives was detected. Four patients needed blood transfusions. One patient was splenectomised. Conclusion：The hereditary erythrocyte PS＇N deficiency＇ s major characteristic is the erythrocyte P5 ＇N deficiency and marked red cell basophilic stippling. Acquired P5 ＇ N deficiency had been well described in associated with ^-thalassaemia trait and other diseases.

关 键 词：贫血 溶血性 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]