PK/G6PD活性比值在丙酮酸激酶缺乏症诊断中的意义*

doi:10.3969/j.issn.1671-2587.2022.06.020

临床输血与检验 ›› 2022, Vol. 24 ›› Issue (6): 785-790.DOI: 10.3969/j.issn.1671-2587.2022.06.020

PK/G6PD活性比值在丙酮酸激酶缺乏症诊断中的意义^*

胡国霞, 李津杞, 李津婴, 查占山, 屠晓华, 钱宝华, 杨江存

200433 上海,中国人民解放军海军军医大学第一附属医院,全军儿童溶血性贫血研究创新基地（胡国霞,李津杞,李津婴,查占山,屠晓华,钱宝华）; 陕西省人民医院输血科（杨江存）

收稿日期:2022-08-01 发布日期:2023-01-05
通讯作者: 钱宝华,男,教授,主任医师,博士生导师,主要从事临床输血、血液管理及血液免疫研究,（E-mail）qianbh1963.com。杨江存,男,博士,研究员,硕士生导师,主要从事临床输血工作,（E-mail)yjc65@sina.com。
作者简介:胡国霞（1989-）,女,甘肃人,检验技师,学士,主要从事溶血性疾病检测及诊断方面的研究,（E-mail）hgxia2022@126.com。
基金资助:
*本课题受陕西省2019年技术创新引导专项（基金）（No.2019CGHJ-09）资助

PK/G6PD Activity Ratio in the Diagnosis of Pyruvate Kinase Deficiency

HU Guo-xia, LI Jin-qi, LI Jin-ying, et al

Department of Blood Transfusion, Changhai Hospital, The First Affiliated Hospital of PLA Naval Medical University, Research & Innovation Base of Pediatric Hemolytic Anemia, Shanghai 200433

Received:2022-08-01 Published:2023-01-05

摘要/Abstract

摘要： 目的评估丙酮酸激酶（PK）与葡萄糖-6-磷酸脱氢酶（G6PD）活性比值在PK缺乏症诊断中的意义。方法回顾性研究分析自2015年1月~2022年1月在我院输血科诊断为丙酮酸激酶缺乏症（PKD）的患者共40例,以健康体检人群作为正常对照组,比较两组人群在血常规、网织红细胞百分数（Ret）、外周血涂片及PK与G6PD活性比值（ICSH推荐方法）之间的差异,分析各指标与PKD之间的关系。结果与正常对照组相比,PKD患病组RBC降低、Ret升高、PK/G6PD比值显著降低（P<0.05）。PK/G6PD比值与PK活性的Pearson相关系数是0.913,且在评价PKD诊断时的ROC曲线下面积是0.972（95% CI：0.941~1.002）。家系杂合子PK/G6PD比值下降程度更甚于非家系杂合子。结论 PK/G6PD比值与PK活性具有同等的诊断价值,尤其是对网织红细胞增高,依赖输血的患者而言。对于隐性遗传缺陷的PKD,家系分析是确诊的有力佐证。

关键词: 丙酮酸激酶缺乏症, PK/G6PD比值, 网织红细胞, 家系杂合子

Abstract: Objective To evaluate the significance of activity ratio of pyruvate kinase （PK） to glucose-6-phosphate dehydrogenase（G6PD）in the diagnosis of PK deficiency. Methods A total of 40 patients diagnosed with pyruvate kinase deficiency（PKD）in the department of blood transfusion at our hospital from January 2015 to January 2022 were retrospectively analyzed. Healthy peoples made up the control group. The differences between the two groups in blood count, reticulocyte percentage（Ret）, peripheral blood smear and PK/G6PD activity ratio（recommended by ICSH） were compared, and the relationship between each index and PKD was analyzed. Results Compared with the control group, RBC decreased, Ret increased and PK/G6PD ratio decreased significantly in the PKD group（P<0.05）. The Pearson correlation coefficient between PK/G6PD ratio and PK activity was 0.913, and the area under the ROC curve when evaluating the diagnosis of PKD was 0.972（95% CI: 0.941~1.002）. The decrease of PK/G6PD ratio in heterozygotes was more severe than that in non-heterozygotes. Conclusion The ratio of PK/G6PD and the activity of PK have the same diagnostic value, especially for patients with increased reticulocyte and transfusion dependence. For PKD with recessive genetic defects, pedigree analysis is strong evidence for diagnosis.

Key words: Pyruvate kinase deficiency, PK/G6PD ratio, Reticulocyte, Family heterozygote

中图分类号:

R446

胡国霞, 李津杞, 李津婴, 查占山, 屠晓华, 钱宝华, 杨江存. PK/G6PD活性比值在丙酮酸激酶缺乏症诊断中的意义^*[J]. 临床输血与检验, 2022, 24(6): 785-790.

HU Guo-xia, LI Jin-qi, LI Jin-ying, et al. PK/G6PD Activity Ratio in the Diagnosis of Pyruvate Kinase Deficiency[J]. JOURNAL OF CLINICAL TRANSFUSION AND LABORATORY MEDICINE, 2022, 24(6): 785-790.

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PK/G6PD活性比值在丙酮酸激酶缺乏症诊断中的意义^*

PK/G6PD Activity Ratio in the Diagnosis of Pyruvate Kinase Deficiency

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