对不同基因检测方法进行比较,这些方法适用于患有类固醇耐药性性综合征的儿科患者
Xueting Cheng1, Jiahuan Chen1, Xueying Yang1
1Department of Nephrology, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, Children's Hospital of Chongqing Medical University, Chongqing, China.
Italian journal of pediatrics
|April 23, 2024
概括
基因检测对于诊断儿科类固醇耐药性脏综合征 (SRNS) 的单一原因至关重要. 基因组为SRNS病例的初始基因查提供了最佳的成本效益.
科学领域:
- 儿科脏病学 儿科脏病学
- 临床遗传学 临床遗传学
- 基因组医学是基因组医学.
背景情况:
- 类固醇耐药性性综合征 (SRNS) 在儿科病例的一个子集中具有单一的原因.
- 目前的临床实践缺乏对儿科SRNS的基因检测的明确指导方针.
- 确定遗传基础对于准确的诊断和治疗至关重要.
研究的目的:
- 分析儿科SRNS的临床表现和基因型之间的关系.
- 为了比较不同遗传检测方法的检测率和成本.
- 在儿科SRNS中建立基因测试策略的指导方针.
主要方法:
- 基因测试,包括基因面板和全外体/基因组测序 (WES/WGS),对332名SRNS.儿童进行.
- 分析了临床数据和遗传发现,以将基因型与表型相关联.
- 对比了WES,WGS和基因面板的检测率和成本效益.
主要成果:
- 在30.12% (100/332) 的SRNS儿童中发现了单一的原因.
- 类固醇与塔克罗利斯 (TAC) 结合,在治疗反应的88.5%患者中实现了完全缓解.
- 全基因组测序 (WGS) 显示了最高的检测率,其次是WES,而基因组是最不敏感但最具成本效益的.
结论:
- 类固醇加TAC代表了儿科SRNS最有效的治疗方法.
- 虽然WGS提供了最高的检测效率,但基因组是SRNS最具成本效益的初始遗传测试策略.
- 为儿科SRNS推的基因测试方法优先考虑成本效益.
相关概念视频
Renal Drug Clearance: Comparison Between Renal Excretion Methods
Renal clearance is a critical parameter encompassing kidney filtration, secretion, and reabsorption processes. It is calculated using a specific equation to determine the rate at which the kidneys clear a drug.
Renal clearance is often associated with the renal glomerular filtration rate (GFR), which represents the rate at which plasma is filtered through the glomeruli in the kidney. When drug reabsorption is minimal and there is no active secretion, renal clearance is closely related to the...
Renal clearance is often associated with the renal glomerular filtration rate (GFR), which represents the rate at which plasma is filtered through the glomeruli in the kidney. When drug reabsorption is minimal and there is no active secretion, renal clearance is closely related to the...
Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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 fluid...
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 any history...


