Institute of Molecular Biomedicine,Faculty of Medicine,Comenius University,Bratislava,Slovakia.
Expert Rev Mol Med. 2018 Jan 18;20:e1. doi: 10.1017/erm.2017.12.
Cell-free DNA (cfDNA) is present in various body fluids and originates mostly from blood cells. In specific conditions, circulating cfDNA might be derived from tumours, donor organs after transplantation or from the foetus during pregnancy. The analysis of cfDNA is mainly used for genetic analyses of the source tissue -tumour, foetus or for the early detection of graft rejection. It might serve also as a nonspecific biomarker of tissue damage in critical care medicine. In kidney diseases, cfDNA increases during haemodialysis and indicates cell damage. In patients with renal cell carcinoma, cfDNA in plasma and its integrity is studied for monitoring of tumour growth, the effects of chemotherapy and for prognosis. Urinary cfDNA is highly fragmented, but the technical hurdles can now be overcome and urinary cfDNA is being evaluated as a potential biomarker of renal injury and urinary tract tumours. Beyond its diagnostic application, cfDNA might also be involved in the pathogenesis of diseases affecting the kidneys as shown for systemic lupus, sepsis and some pregnancy-related pathologies. Recent data suggest that increased cfDNA is associated with acute kidney injury. In this review, we discuss the biological characteristics, sources of cfDNA, its potential use as a biomarker as well as its role in the pathogenesis of renal and urinary diseases.
无细胞游离 DNA(cfDNA)存在于各种体液中,主要来源于血细胞。在特定条件下,循环 cfDNA 可能来自肿瘤、移植后的供体器官或妊娠期间的胎儿。cfDNA 的分析主要用于源组织(肿瘤、胎儿)的遗传分析,或用于早期检测移植物排斥。它也可能作为重症监护医学中组织损伤的非特异性生物标志物。在肾脏疾病中,cfDNA 在血液透析过程中增加,并表明细胞损伤。在肾细胞癌患者中,血浆中的 cfDNA 及其完整性用于监测肿瘤生长、化疗效果和预后。尿 cfDNA 高度碎片化,但现在可以克服技术障碍,并且正在评估尿 cfDNA 作为肾脏损伤和尿路肿瘤的潜在生物标志物。cfDNA 除了具有诊断应用外,还可能参与影响肾脏的疾病的发病机制,如系统性红斑狼疮、脓毒症和一些与妊娠相关的病理。最近的数据表明,cfDNA 增加与急性肾损伤有关。在这篇综述中,我们讨论了 cfDNA 的生物学特性、来源及其作为生物标志物的潜在用途,以及在肾脏和泌尿系统疾病发病机制中的作用。