相关实验视频

Updated: Jul 27, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

费布里病病:具有非经典突变和未知意义的遗传变异的组织学变化

Marisa Santostefano¹, Maria Cappuccilli¹, Dino Gibertoni²

¹Nephrology, Dialysis and Renal Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna; Alma Mater Studiorum, University of Bologna, Bologna.

American journal of kidney diseases : the official journal of the National Kidney Foundation

|June 10, 2023

概括

在法布里病 (FD) 中,早期脏活检揭示了组织学异常,即使有轻微的症状. 在FD患者中的这些发现可以帮助识别脏参与,并指导治疗决策.

科学领域:

腎臟病學 (nephrology) 是一種醫學專業.
遗传学是一个遗传学.
病理学病理学病理学

背景情况:

费布里病 (FD) 是一种X关联疾病,导致糖脂积累和多器官功能障碍,包括脏疾病.
患有FD的个体可能携带具有不确定的意义的基因变异 (GVUS),使诊断和管理复杂化.
了解FD早期病理学对于及时干预至关重要.

研究的目的:

为了描述早期的法布里病的病理.
调查病变与不确定的重要基因变异 (GVUS) 的关联,以及患者的性别.
为了深入了解FD相关病的早期组织学表现.

主要方法:

一个单一中心的回顾性病例系列,涉及35名连续活检的FD患者.
使用国际研究小组的法布里脏病评分系统对活检进行查.
记录遗传突变类型,性别,年龄,eGFR,血lysogb3 (pLyso-Gb3) 水平和组织学参数.

主要成果:

组织学异常,包括podocyte,管状和周管状毛细血管真空/包含,甚至在患有正常/轻度白蛋白尿症的患者中也观察到.
慢性病的证据,如质硬化和间歇性纤维化,在疾病的早期存在.
形态病变在男性和女性中是相似的,但在男性中更常见的是间歇性纤维化和动脉动脉质症等一些例外.

结论:

在法布里病的早期脏活检显示了许多组织学异常.
这些发现表明,早期细胞活检可以确定脏在FD中的积极脏参与.
通过活检早期检测可以为法布里病患者的临床管理策略提供信息.

关键词:

慢性脏疾病慢性脏疾病费布里病是什么意思费布里病是什么意思织物脏病是什么意思织物脏病酶替代疗法是一种酶替代疗法.葡萄糖样硬化症葡萄糖样硬化症间歇性纤维化间歇性纤维化脏活组织检查 lysosomal 储存疾病 lysosomal 储存疾病波多细胞真空体的真空体.蛋白质尿症是一种蛋白质尿症.α-GAL A 是一个

更多相关视频

Unilateral Ureteral Obstruction Model for Investigating Kidney Interstitial Fibrosis

Unilateral Ureteral Obstruction Model for Investigating Kidney Interstitial Fibrosis

Published on: April 25, 2025

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Published on: June 23, 2015

相关概念视频

Nephrons

Nephrons

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...

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...

Renal Corpuscle

Renal Corpuscle

The glomerulus and Bowman's capsule are two essential components of the nephron, which is the functional unit of the kidney. These microscopic structures play a critical role in the process of blood filtration to produce urine.
Glomerulus: Structure and Function
The glomerulus is a tiny, intricate network of capillaries located at the beginning of the nephron. It's enveloped by the Bowman's capsule and receives its blood supply from an afferent arteriole, which divides into numerous...

Mutations

Mutations

Amyloid Fibrils

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins. Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils.
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...

Cystic Fibrosis: Pathogenesis

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...