Division of Pediatric Hematology/Oncology, Department of Pediatrics, Children's Hospital of Pittsburgh, Pittsburgh, PA; and.
Division of Hematology/Oncology and UPMC Heart, Lung and Blood Vascular Medicine Institute, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, PA.
Hematology Am Soc Hematol Educ Program. 2018 Nov 30;2018(1):482-492. doi: 10.1182/asheducation-2018.1.482.
Progress in the care of sickle cell disease (SCD) has been hampered by the extreme complexity of the SCD phenotype despite its monogenic inheritance. While epidemiological studies have identified clinical biomarkers of disease severity, with a few exceptions, these have not been routinely incorporated in clinical care algorithms. Furthermore, existing biomarkers have been poorly apt at providing objective parameters to diagnose sickle cell crisis, the hallmark, acute complication of SCD. The repercussions of these diagnostic limitations are reflected in suboptimal care and scarcity of adequate outcome measures for clinical research. Recent progress in molecular and imaging diagnostics has heralded a new era of personalized medicine in SCD. Precision medicine strategies are particularly timely, since molecular therapeutics are finally on the horizon. This chapter will summarize the existing evidence and promising data on biomarkers for clinical care and research in SCD.
尽管镰状细胞病 (SCD) 的遗传方式是单基因遗传，但由于其表型的极端复杂性，其治疗进展一直受到阻碍。尽管流行病学研究已经确定了疾病严重程度的临床生物标志物，但除了少数例外，这些生物标志物并未常规纳入临床护理算法中。此外，现有的生物标志物在提供客观参数以诊断镰状细胞危象方面的效果较差，而镰状细胞危象是 SCD 的标志性、急性并发症。这些诊断局限性的影响反映在护理不佳和缺乏足够的临床研究结果衡量标准上。分子和成像诊断学的最新进展预示着 SCD 个体化医疗的新时代的到来。精准医疗策略尤其及时，因为分子疗法终于即将问世。本章将总结 SCD 临床护理和研究中生物标志物的现有证据和有前途的数据。
