关键词: clinical biomarkers hemolysis hypercoagulability sickle cell crisis sickle cell disease

来  源:   DOI:10.7759/cureus.56389   PDF(Pubmed)

Abstract:
It is known that an inherited blood condition called sickle cell disease (SCD) is a result of one gene. A number of blood and urine biomarkers have been determined in association with lab and clinical history for SCD patients. SCD has numerous interacting pathways associated with it, which have been identified by biomarkers. These mechanisms consist of some examples, such as endothelial vasodilation response, hypercoagulability, hemolysis, inflammation, oxidative stress, vascular dysfunction, and reperfusion injury among others. To effectively manage SCD, a comprehensive panel of validated blood and urine biomarkers must be established. Despite its monogenic inheritance, the complex nature of the SCD phenotype has impeded progress in its treatment. However, significant strides have been made in clinical biotechnology, paving the way for potential breakthroughs. In SCD, a panel of verified blood and urine biomarkers must be established, however. Despite monogenic inheritance, the great complexity of the SCD phenotype has hindered progress in its management. With few exceptions, clinical biomarkers of illness severity have been found through epidemiological investigations; nevertheless, systematic integration of these biomarkers into clinical treatment algorithms has not occurred. Furthermore, sickle cell crisis, the primary acute consequence of SCD, has been difficult to diagnose with the biomarkers now in use. Inadequate care and a lack of appropriate outcome measures for clinical research are the consequences of these diagnostic constraints. A new chapter in SCD customized treatment has begun with recent advancements in molecular and imaging diagnostics. Strategies in precision medicine are especially relevant now that molecular therapies are within reach. The significance of biochemical indicators linked to clinical manifestation and sub-phenotype identification in SCD is reviewed in this research.
摘要:
众所周知,一种称为镰状细胞病(SCD)的遗传性血液疾病是一种基因的结果。已经确定了与SCD患者的实验室和临床病史相关的许多血液和尿液生物标志物。SCD有许多与之相关的相互作用途径,已通过生物标志物鉴定。这些机制包括一些例子,如内皮血管舒张反应,高凝状态,溶血,炎症,氧化应激,血管功能障碍,和再灌注损伤等等。为了有效地管理SCD,必须建立一组经过验证的血液和尿液生物标志物。尽管它是单基因遗传,SCD表型的复杂性阻碍了其治疗的进展.然而,临床生物技术取得了重大进展,为潜在的突破铺平道路。在SCD中,必须建立一组经过验证的血液和尿液生物标志物,however.尽管单基因遗传,SCD表型的复杂性阻碍了其管理的进展。除了少数例外,通过流行病学调查发现了疾病严重程度的临床生物标志物;然而,尚未将这些生物标志物系统地整合到临床治疗算法中。此外,镰状细胞危机,SCD的主要急性后果,用现在使用的生物标志物很难诊断。这些诊断限制的后果是缺乏适当的护理和临床研究的适当结果措施。随着分子和成像诊断的最新进展,SCD定制治疗的新篇章已经开始。精准医学的策略尤其重要,因为分子疗法已经触手可及。本研究综述了生化指标与SCD临床表现和亚表型鉴定相关的意义。
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