论文部分内容阅读
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 investigate the clinical features, laboratory features and treatment of erythrocyte pyrimidine 5’-nucleotidase (P5’N) deficiency in patients. Methods: Retrospective analysis of 9 cases of P5’N deficiency in patients with clinical data and laboratory features and review the relevant literature review. Results: All 9 patients had different degree of anemia. Other symptoms included 7 cases of splenomegaly, 6 cases of jaundice, 2 cases of cholelithiasis and 1 case of hepatomegaly. Two patients had beta-thalassemia and one had pyruvate kinase deficiency (PK). In 4 of the 4 analyzable cases, there was a concurrent P5’N deficiency in both mothers. Four patients needed blood transfusions. Conclusion: Hereditary P5’N deficiency is characterized by decreased P5’N activity of erythrocytes and visible basophilic erythroblasts in peripheral blood. Acquired P5’N deficiency can be seen in diseases such as β-thalassemia.