Stone Hillarey, Magella Bliss, Bennett Michael R
Division of Nephrology and Hypertension, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, United States.
Front Pediatr. 2019 Oct 16;7:404. doi: 10.3389/fped.2019.00404. eCollection 2019.
Identification of genes associated with childhood-onset nephrotic syndrome has significantly advanced our understanding of the pathogenesis of this complex disease over the past two decades, however the precise etiology in many cases remains unclear. At this time, we still rely on invasive kidney biopsy to determine the underlying cause of nephrotic syndrome in adults. In children, response to steroid therapy has been shown to be the best indicator of prognosis, and therefore all children are treated initially with corticosteroids. Because this strategy exposes a large number of children to the toxicities of steroids without providing any benefit, many researchers have sought to find a marker that could predict a patient's response to steroids at the time of diagnosis. Additionally, the identification of such a marker could provide prognostic information about a patient's response to medications, progression to end stage renal disease, and risk of disease recurrence following transplantation. Major advances have been made in understanding how genetic biomarkers can be used to predict a patient's response to therapies and disease course, especially after transplantation. Research attempting to identify urine- and serum-based biomarkers which could be used for the diagnosis, differentiation, and prognosis of nephrotic syndrome has become an area of emphasis. In this review, we explore the most exciting biomarkers and their potential clinical applications.
在过去二十年中,与儿童期肾病综合征相关基因的鉴定显著增进了我们对这种复杂疾病发病机制的理解,然而在许多情况下,确切病因仍不明确。目前,我们仍依赖侵入性肾活检来确定成人肾病综合征的潜在病因。在儿童中,对类固醇治疗的反应已被证明是预后的最佳指标,因此所有儿童最初都接受皮质类固醇治疗。由于这种策略使大量儿童暴露于类固醇的毒性之下却未带来任何益处,许多研究人员试图找到一种能够在诊断时预测患者对类固醇反应的标志物。此外,识别这样一种标志物可以提供有关患者对药物反应、进展至终末期肾病以及移植后疾病复发风险的预后信息。在理解如何利用遗传生物标志物预测患者对治疗的反应和疾病进程方面,尤其是在移植后,已经取得了重大进展。试图识别可用于肾病综合征诊断、鉴别和预后的基于尿液和血清的生物标志物的研究已成为一个重点领域。在本综述中,我们探讨了最令人兴奋的生物标志物及其潜在的临床应用。