类固醇耐药性脏综合征的罕见原因 - 一个病例报告
Paulina Kuran1, Emilia Platos2, Małgorzata Mizerska-Wasiak1
1Department of Pediatrics and Nephrology, Medical University of Warsaw, Poland.
Central-European journal of immunology
|September 11, 2023
概括
儿童类固醇耐药性性综合征 (SRNS) 可能是由罕见的NUP93基因突变引起的. 早期发现和量身定制的治疗,包括环素A,可以改善结果并保持功能.
科学领域:
- 儿科脏病学 儿科脏病学
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
背景情况:
- 类固醇耐药性性综合征 (SRNS) 影响儿童,超过50个已识别的基因与其致病症相关.
- 通常识别的基因包括NPHS1,NPHS2,CD2AP和PTPRO,具有各种遗传模式 (自体逆向,主导,线粒体).
- 组织病理学分析经常显示受影响组织的焦点细分性淋巴结核硬化 (FSGS).
研究的目的:
- 在儿科患者中报告SRNS病例.
- 为了研究这种患者类固醇耐药性的遗传基础.
- 描述临床过程和治疗结果.
主要方法:
- 一个6岁女孩患有性综合征的临床病例介绍.
- 最初使用普得尼松,埃纳拉普利和抗组胺药的治疗.
- 通过脏活检确认类固醇耐药性和FSGS.
- 对SRNS突变进行遗传查.
- 在NUP93突变检测后,对循环氨酸A进行治疗调整.
主要成果:
- 患者呈现了脏性范围蛋白尿和,对高剂量类固醇无反应.
- 脏活检证实了FSGS.
- 基因分析显示了一种罕见的NUP93基因突变.
- 用环素A治疗导致血压正常,微量蛋白尿,功能保持.
结论:
- NUP93突变是儿童SRNS的极为罕见原因,通常在8岁之前出现.
- 早期遗传诊断对于指导SRNS的治疗策略至关重要.
- 针对性治疗,如环素A,可以有效地管理NUP93相关的SRNS.
更多相关视频
05:18Author Spotlight: Ultrasound-Guided Needle Release Combined with Corticosteroid Injection for the Treatment of Supinator Syndrome
Published on: May 26, 2023
1.4K
07:15Mechanism of Kemeng Fang's Inhibition of Podocyte Apoptosis in Rats with Membranous Nephropathy through the PI3K/AKT Signaling Pathway
Published on: August 23, 2024
468
相关概念视频
01:10Nephrons
The kidneys are intricate organs with millions of working units known as nephrons. Each nephron features two major structures: the renal corpuscle, which facilitates blood plasma filtration, and the renal tubule, which handles the glomerular filtrate. Blood supply is directly linked to the nephrons. The renal corpuscle consists of the glomerulus, a capillary network, and the Bowman's capsule, a double-walled epithelial structure that encases the glomerulus. The filtering of blood plasma happens...
01:24Nephrotic 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...
01:26Nephrotic 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...
01:29Acute Kidney Injury II: Pathophysiology
Acute kidney injury (AKI) causes are categorized into three primary categories based on the location of the injury: prerenal, intrarenal (or intrinsic), and postrenal causes. This classification guides clinical management and illustrates how different pathways can impair kidney function.Etiology and Pathophysiology of Acute Kidney Injury1. Prerenal causesEtiology: Prerenal Acute Kidney Injury, the most common type, occurs when reduced blood flow to the kidneys decreases filtration capacity...
01:26Cushing Syndrome I: Introduction
Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the syndrome.Exogenous...
01:28Diabetic Nephropathy
Definition Diabetic nephropathy is a chronic kidney complication that results from prolonged hyperglycemia.Prevalence It is the most common cause of chronic kidney disease (CKD) and end-stage renal disease (ESRD) worldwide, affecting up to half of individuals with diabetes.Pathophysiology • Sustained hyperglycemia triggers multiple hemodynamic and metabolic changes in the kidney. • Early in the disease, increased renal blood flow and glomerular hyperfiltration occur due to afferent arteriolar...