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成人原发性、遗传型和继发性局灶节段性肾小球硬化的鉴别:一种临床病理方法。

Differentiating Primary, Genetic, and Secondary FSGS in Adults: A Clinicopathologic Approach.

机构信息

Division of Nephrology, AZ Sint-Jan Brugge-Oostende, Brugge, Belgium;

Department of Anatomic Pathology and.

出版信息

J Am Soc Nephrol. 2018 Mar;29(3):759-774. doi: 10.1681/ASN.2017090958. Epub 2018 Jan 10.

Abstract

FSGS describes a renal histologic lesion with diverse causes and pathogenicities that are linked by podocyte injury and depletion. Subclasses of FSGS include primary, genetic, and secondary forms, the latter comprising maladaptive, viral, and drug-induced FSGS. Despite sharing certain clinical and histologic features, these subclasses differ noticeably in management and prognosis. Without an accepted nongenetic biomarker that discriminates among these FSGS types, classification of patients is often challenging. This review summarizes the clinical and histologic features, including the onset and severity of proteinuria as well as the presence of nephrotic syndrome, that may aid in identifying the specific FSGS subtype. The FSGS lesion is characterized by segmental sclerosis and must be differentiated from nonspecific focal global glomerulosclerosis. No light microscopic features are pathognomonic for a particular FSGS subcategory. The characteristics of podocyte foot process effacement on electron microscopy, while helpful in discriminating between primary and maladaptive FSGS, may be of little utility in detecting genetic forms of FSGS. When FSGS cannot be classified by clinicopathologic assessment, genetic analysis should be offered. Next generation DNA sequencing enables cost-effective screening of multiple genes simultaneously, but determining the pathogenicity of a detected genetic variant may be challenging. A more systematic evaluation of patients, as suggested herein, will likely improve therapeutic outcomes and the design of future trials in FSGS.

摘要

FSGS 描述了一种具有多种病因和发病机制的肾脏组织学病变,这些病因和发病机制都与足细胞损伤和耗竭有关。FSGS 的亚类包括原发性、遗传性和继发性,后者包括适应性不良、病毒和药物诱导的 FSGS。尽管这些亚类具有某些共同的临床和组织学特征,但在管理和预后方面却有明显的差异。由于缺乏区分这些 FSGS 类型的公认的非遗传生物标志物,因此患者的分类通常具有挑战性。本文综述了 FSGS 各亚型的临床和组织学特征,包括蛋白尿的起始和严重程度以及肾病综合征的存在,这些特征可能有助于识别特定的 FSGS 亚型。FSGS 病变的特征是节段性硬化,必须与非特异性局灶性全球肾小球硬化相鉴别。没有任何光镜特征可以明确特定 FSGS 亚类。电子显微镜下足细胞足突消失的特征虽然有助于区分原发性和适应性不良 FSGS,但在检测 FSGS 的遗传形式时可能用处不大。当临床病理评估无法对 FSGS 进行分类时,应提供基因分析。新一代 DNA 测序可以同时进行多个基因的经济高效筛选,但确定检测到的遗传变异的致病性可能具有挑战性。如本文所述,对患者进行更系统的评估可能会改善 FSGS 的治疗效果,并为未来的试验设计提供参考。

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