相关实验视频

Updated: Jul 12, 2025

Assessment of Kidney Function in Mouse Models of Glomerular Disease

Assessment of Kidney Function in Mouse Models of Glomerular Disease

Published on: June 30, 2018

焦点细分质结核病的基因检测:在谁和什么时候?

Ana María Tato¹, Noa Carrera², Maria García-Murias²

¹Department of Nephrology, Hospital Universitario Fundación Alcorcón, Alcorcón, Spain.

Clinical kidney journal

|November 2, 2023

概括

在焦点细分质硬化 (FSGS) 中,即使没有家族病史,基因变异也很常见. 对于患有类固醇耐药性性综合征FSGS (SRNS-FSGS) 和原因不明的FSGS (FSGS-UC) 的患者,建议进行基因检测.

科学领域:

腎臟病學 (nephrology) 是一種醫學專業.
遗传学遗传学是一个
分子生物学分子生物学

背景情况:

焦点细分性淋巴结核硬化 (FSGS) 已被认可为遗传原因,但患者选择用于遗传研究仍然不清楚.
确定特定FSGS亚型中遗传变异的频率和分布对于诊断和管理至关重要.

研究的目的:

调查成年期类固醇耐药性性综合征FSGS (SRNS-FSGS) 和原因不明的FSGS (FSGS-UC) 的遗传变异的流行率和模式.
评估基因检测在这些FSGS患者群体的常规临床实践中的有用性.

主要方法:

在76名成人发病SRNS-FSGS或FSGS-UC的患者中,对84个与凝聚蛋白病相关的基因进行了针对性外基因测序.
在基因分析之前,FSGS的二次原因被排除在外.

主要成果:

与FSGS相关的致病变体在35.5%的患者中被发现.
最常见的遗传发现是COL4A3-5基因 (29.3%) 和NPHS2突变 (16.2%).
不管年龄,蛋白尿,功能或家族病史,都发现了遗传变异,尽管在遗传受影响的患者中,血尿更为普遍.

结论:

遗传变异在SRNS-FSGS和FSGS-UC患者中的很大一部分中普遍存在.
基因检测应纳入常规的临床检查,以诊断这些患者群体的FSGS.

关键词:

这些都是FSGS,FSGS,FSGS.遗传性疾病是一种遗传性疾病.鼻性综合征是什么意思这是一种podocytopathy病.对类固醇耐药性的研究.

更多相关视频

Supervised Machine Learning for Semi-Quantification of Extracellular DNA in Glomerulonephritis

Supervised Machine Learning for Semi-Quantification of Extracellular DNA in Glomerulonephritis

Published on: June 18, 2020

Glomerular Outgrowth as an Ex Vivo Assay to Analyze Pathways Involved in Parietal Epithelial Cell Activation

Glomerular Outgrowth as an Ex Vivo Assay to Analyze Pathways Involved in Parietal Epithelial Cell Activation

Published on: August 19, 2020

相关概念视频

Nephrotic Syndrome II : Assessment and Medical Management

Nephrotic Syndrome II : Assessment and Medical Management

IntroductionNephrotic syndrome is a kidney disorder marked by excessive protein loss in the urine, leading to various systemic complications. This condition often results from damage to the glomeruli—the kidney's filtering units—causing proteinuria, low blood protein levels, and fluid retention. Understanding the assessment, diagnosis, and management of nephrotic syndrome is essential for effective treatment and prevention of further kidney damage.AssessmentPatient History: Document...

Nephrotic Syndrome I : Introduction

Nephrotic Syndrome I : Introduction

Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...