病例报告:用于表现为蛋白尿和心室隔膜加厚的法布里病的酶替代疗法
Zewei Chen1, Bo Yin2, Juan Jiao2
1Department of Nephrology, The First Navy Hospital of Southern Theater Command, Zhanjiang, Guangdong, China.
BMC nephrology
|February 21, 2024
概括
酶替代疗法 (ERT) 在法布里病患者中稳定蛋白尿和心脏加厚. 对于法布里病,早期启动ERT可降低全球基胺沉积和临床进展.
科学领域:
- 遗传学和罕见疾病.
- 代谢障碍 代谢障碍 代谢障碍
- 生物化学 生物化学
背景情况:
- 费布里病 (FD) 是一种X链 lysosomal储存障碍,由缺乏α-galactosidase A (α-Gal A) 活性引起.
- 这种缺陷导致各个细胞中的全球三胺 (GL-3) 积累,导致逐渐的器官损伤.
- 使用外源性α-Gal A的酶替代疗法 (ERT) 是对FD的一种成熟治疗方法.
相关概念视频
01:15Western Blotting
Western blotting is an analytical technique for protein identification. It has various applications in immunology and medicine, including detecting diseases like bovine spongiform encephalopathy, mad cow disease, and human and feline immunodeficiency virus from biological samples.
The technique begins with separating proteins from the sample using sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE), followed by protein transfer, immunoblotting, and finally, protein detection.
The technique begins with separating proteins from the sample using sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE), followed by protein transfer, immunoblotting, and finally, protein detection.
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...
01:24Nephrotic Syndrome III : Nursing Management
Nursing management for nephrotic syndrome adapts as the disease progresses, with strategies evolving to address advancing symptoms and complications.Early-Stage Management In the early stages, nursing interventions for nephrotic syndrome resemble those used in managing acute glomerulonephritis, focusing on symptom monitoring, fluid balance, and managing mild to moderate edema.Vital Signs: Regularly monitor blood pressure, pulse, respiratory rate, and temperature to promptly identify...
01:28Chronic Kidney Disease III: Interprofessional Care
Chronic kidney disease (CKD) requires collaborative and comprehensive management. CKD progresses through stages and can lead to end-stage kidney disease (ESKD) if untreated. Interprofessional collaboration and patient education are crucial, enabling patients to manage their health and improve their quality of life.Diagnostic approach for chronic kidney diseaseThe diagnosis of CKD primarily focuses on the glomerular filtration rate (GFR), which assesses kidney function by measuring how well...