红细胞嘧啶5’-核苷酸酶缺乏症9例并文献复习

李大鹏; 姜波; 赵玉平; 许剑辉; 张凤奎; 郑以州; 竺晓凡; 薛艳萍

doi:10.13201/j.issn.1004-2806.2012.06.010

红细胞嘧啶5’-核苷酸酶缺乏症9例并文献复习

- 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)

详细信息

通讯作者: 薛艳萍,E-mail:xueyanping@medmail.com.cn

中图分类号: R556

收稿日期: 2012-04-10

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

- Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Science, Tianjin, 300020, China

More Information

Corresponding author: XUE Yanping, E-mail: xueyanping@medmail.com.cn

Received Date: 10 April 2012

摘要

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。
- 贫血,溶血性 /
- 嘧啶5’-核苷酸酶 /
- 红细胞
Abstract: Objective:To clarify the clinical and experimental characteristics of erythrocyte pyrimidine 5’-nucleotidase(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 splenomegaly in 7 patients,jaundice in 6 patients,cholelithiasis in 2 patients and hepatomegaly in 1 patient.Two patients were complicated with β-thalassaemia trait.One patient was associated with pyruvate kinase(PK)deficiency.In 2 of 4 assessable patients,P5’N deficiency in first-degree relatives was detected.Four patients needed blood transfusions.One patient was splenectomised.Conclusion:The hereditary erythrocyte P5’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 β-thalassaemia trait and other diseases.
- hemolytic anemia /
- pyrimidine 5’-nucleotidase /
- erythrocyte

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参考文献(9)

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