ABSTRACT

Introduction: Exosomes are nanovesicles that play important functions in a variety of physiological and pathological conditions. They are powerful cell-to-cell communication tool thanks to the protein, mRNA, miRNA, and lipid cargoes they carry. They are also emerging as valuable diagnostic and prognostic biomarker sources. Urinary exosomes carry information from all the cells of the urinary tract, downstream of the podocyte. Rare kidney diseases are a subset of an inherited diseases whose genetic diagnosis can be unclear, and presentation can vary due to genetic, epigenetic, and environmental factors.

Areas covered: In this review, we focus on a group of rare and often neglected kidney diseases, for which we have sufficient available literature data on urinary exosomes. The analysis of their content can help to comprehend pathological mechanisms and to identify biomarkers for diagnosis, prognosis, and therapeutic targets.

Expert opinion: The foreseeable large-scale application of system biology approach to the profiling of exosomal proteins as a source of renal disease biomarkers will be also useful to stratify patients with rare kidney diseases whose penetrance, phenotypic presentation, and age of onset vary sensibly. This can ameliorate the clinical management.

摘要

简介：外泌体是一种纳米囊泡，在多种生理和病理条件下发挥重要作用。由于它们携带的蛋白质、mRNA、miRNA 和脂质货物，它们是强大的细胞间通讯工具。它们也正在成为有价值的诊断和预后生物标志物来源。泌尿外泌体携带来自足细胞下游泌尿道所有细胞的信息。罕见的肾脏疾病是遗传疾病的一个子集，其遗传诊断可能不清楚，并且表现可能因遗传、表观遗传和环境因素而异。

涵盖的领域：在这篇综述中，我们关注一组罕见且经常被忽视的肾脏疾病，为此我们有足够的关于尿外泌体的文献数据。对其内容的分析有助于理解病理机制并确定用于诊断、预后和治疗目标的生物标志物。

专家意见：可预见的大规模应用系统生物学方法来分析外泌体蛋白作为肾脏疾病生物标志物的来源，也将有助于对外显率、表型表现和发病年龄差异显着的罕见肾脏疾病患者进行分层。这可以改善临床管理。