红细胞嘧啶5′-核苷酸酶缺乏致溶血性贫血1例报道并文献复习  

A case report of hemolytic anemia due to erythrocyte pyrimidine 5′-nucleotidase deficiency and review of the literature

作　　者：刘媛[1,3] 刘瑞璇 庄泽钦 曾鹏琳 周佳 钟应彬 杨洪涌 杨志文[2] LIU Yuan;LIU Ruixuan;ZHUANG Zeqin;ZENG Penglin;ZHOU Jia;ZHONG Yingbin;YANG Hongyong;YANG Zhiwen(The First Clinical Medical College of Guangzhou University of Chinese Medicine,Guangzhou,510405,China;Department of Hematology,The First Affiliated Hospital of Guangzhou University of Traditional Chinese Medicine)

机构地区：[1]广州中医药大学第一临床医学院,广州510405 [2]广州中医药大学第一附属医院血液科 [3]昆明市中医医院急诊科,昆明650599

出　　处：《临床血液学杂志》2023年第11期831-834,共4页Journal of Clinical Hematology

摘　　要：红细胞嘧啶5′-核苷酸酶缺乏症(pyrimidine 5′-nucleotide deficiency,P5′ND)是一种罕见的遗传性酶缺陷疾病,目前报道较少。文中病例反复出现溶血性贫血、黄疸、脾脏肿大,经完善红细胞酶学试验最终诊断为P5′ND。笔者结合相关文献复习认为,对于慢性非球形溶血性贫血患者,需警惕此类红细胞酶缺陷相关疾病,有条件者可尽量完善二代基因测序筛选致病基因,更好地指导临床实践。现特将其诊疗过程初步整理、总结并报道如下,以期为罕见病的诊治思路提供一定参考价值。Erythrocyte pyrimidine 5′-nucleotide deficiency(P5′ND)is a rare hereditary enzyme deficiency disease,which is rarely reported.The case in this paper had recurrent hemolytic anemia,jaundice and splenomegaly,and was finally diagnosed as P5′ND by perfect erythrocyte enzymology test.Combined with relevant literature review,the author believes that for patients with chronic non-spherical hemolytic anemia,it is necessary to be vigilant against such erythrocyte enzyme deficiency-related diseases.If conditions permit,the second-generation gene sequencing can be improved to screen pathogenic genes and better guide clinical practice.The diagnosis and treatment process is preliminarily sorted out,summarized and reported as follows,in order to provide some reference value for the diagnosis and treatment of rare diseases.

关 键 词：红细胞嘧啶5′-核苷酸酶缺乏症 遗传性红细胞酶缺乏 红细胞酶学检查 二代基因测序 

分 类 号：R556.6[医药卫生—血液循环系统疾病]