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慢性肾脏病(透析前)患者促红细胞生成素缺乏性贫血的临床和遗传标志物

Clinical and genetic markers of erythropoietin deficiency anemia in chronic kidney disease (predialysis) patients.

作者信息

Yugavathy Nava, Huri Hasniza Zaman, Kun Lim Soo, Bin Abdul Gafor Abdul Halim, Geot Wong Muh, Bavanandan Sunita, Seng Wong Hing

机构信息

Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia.

Department of Pharmacy, Faculty of Pharmacy, University of Malaya, Kuala Lumpur 50603, Malaysia.

出版信息

Biomark Med. 2020 Aug;14(12):1099-1108. doi: 10.2217/bmm-2020-0205.

DOI:10.2217/bmm-2020-0205
PMID:32969247
Abstract

To determine the clinical and genetic markers associated with erythropoietin deficiency anemia in predialysis individuals. Patients were categorized into cases and control group. Demographic characteristics and clinical parameters were obtained from medical record review and serum EPO and ferritin were obtained with ELISA. (rs2057482), (rs1143627) and (rs1617640) gene polymorphism were genotyped. Female gender, glomerular filtration rate, treatment with hematinics, anticoagulant and diuretic were strong predictors of EPO-deficient anemia in predialysis chronic kidney disease patients. Genetic polymorphism in the recessive model was associated with non-EPO-deficiency, followed by recessive allele associated with low-serum erythropoietin and recessive model with low hemoglobin level. EPO-deficiency anemia can be diagnosed more conveniently in the presence of biomarkers.

摘要

确定与透析前个体促红细胞生成素缺乏性贫血相关的临床和遗传标志物。将患者分为病例组和对照组。通过病历回顾获取人口统计学特征和临床参数,并采用酶联免疫吸附测定法检测血清促红细胞生成素(EPO)和铁蛋白。对(rs2057482)、(rs1143627)和(rs1617640)基因多态性进行基因分型。女性、肾小球滤过率、使用补血药、抗凝剂和利尿剂治疗是透析前慢性肾病患者促红细胞生成素缺乏性贫血的强预测因素。在隐性模型中,基因多态性与非促红细胞生成素缺乏相关,其次是与低血清促红细胞生成素相关的隐性等位基因以及与低血红蛋白水平相关的隐性模型。在存在生物标志物的情况下,可以更方便地诊断促红细胞生成素缺乏性贫血。

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