Yugavathy Nava, Abdullah Bashar Mudhaffar, Lim Soo Kun, Abdul Gafor Abdul Halim Bin, Wong Muh Geot, Bavanandan Sunita, Wong Hin Seng, Huri Hasniza Zaman
Department of Clinical Pharmacy and Pharmacy Practice, Faculty of Pharmacy, Universiti Malaya, Kuala Lumpur 50603, Malaysia.
Clinical Laboratory Technology Department, Al-Rafidain University College, Baghdad 46036, Iraq.
Curr Issues Mol Biol. 2023 Aug 7;45(8):6550-6563. doi: 10.3390/cimb45080413.
The study of anaemia is a well-developed discipline where the concepts of precision medicine have, in part, been researched extensively. This review discusses the treatment of erythropoietin (EPO) deficiency anaemia and resistance in cases of chronic kidney disease (CKD). Traditionally, erythropoietin-stimulating agents (ESAs) and iron supplementation have been used to manage anaemia in cases of CKD. However, these treatments pose potential risks, including cardiovascular and thromboembolic events. Newer treatments have emerged to address these risks, such as slow-release and low-dosage intravenous iron, oral iron supplementation, and erythropoietin-iron combination therapy. Another novel approach is the use of hypoxia-inducible factor prolyl hydroxylase inhibitors (HIF-PHIs). This review highlights the need for precision medicine targeting the genetic components of EPO deficiency anaemia in CKD and discusses individual variability in genes such as the erythropoietin gene (EPO), the interleukin-β gene (IL-β), and the hypoxia-inducible factor gene (HIF). Pharmacogenetic testing aims to provide targeted therapies and interventions that are tailored to the specific characteristics of an individual, thus optimising treatment outcomes and minimising resistance and adverse effects. This article concludes by suggesting that receptor modification has the potential to revolutionise the treatment outcomes of patients with erythropoietin deficiency anaemia through the integration of the mentioned approach.
贫血研究是一门发展成熟的学科,其中精准医学的概念已在一定程度上得到广泛研究。本综述讨论了慢性肾脏病(CKD)患者中促红细胞生成素(EPO)缺乏性贫血的治疗及耐药情况。传统上,促红细胞生成素刺激剂(ESAs)和铁剂补充一直用于治疗CKD患者的贫血。然而,这些治疗存在潜在风险,包括心血管和血栓栓塞事件。为应对这些风险,出现了一些新的治疗方法,如缓释和低剂量静脉铁剂、口服铁剂补充以及促红细胞生成素 - 铁联合治疗。另一种新方法是使用缺氧诱导因子脯氨酰羟化酶抑制剂(HIF - PHIs)。本综述强调了针对CKD中EPO缺乏性贫血的遗传成分进行精准医学的必要性,并讨论了促红细胞生成素基因(EPO)、白细胞介素 - β基因(IL - β)和缺氧诱导因子基因(HIF)等基因的个体差异。药物遗传学检测旨在提供针对个体特定特征的靶向治疗和干预措施,从而优化治疗效果并最小化耐药性和不良反应。本文最后指出,通过整合上述方法,受体修饰有可能彻底改变促红细胞生成素缺乏性贫血患者的治疗效果。