诊断法布里病:多重病的挑战
Pasquale Esposito1,2, Carmela Caputo3, Monica Repetto3
1Department of Internal Medicine, University of Genoa, Genoa, Italy. Pasquale.esposito@unige.it.
BMC nephrology
|November 22, 2023
概括
法布里病 (FD) 是一种遗传性溶酶体疾病,通常会出现非特异性脏问题,延迟诊断. 即使与脏疾病并存,早期发现法布里脏病,对于及时治疗和预防并发症至关重要.
科学领域:
- 遗传学和罕见疾病.
- 腎臟病學 (nephrology) 是一種醫學專業.
- 生物化学 生物化学
背景情况:
- 费布里病 (FD) 是一种X链接的遗传性溶酶体储存障碍,由由于GLA基因突变而导致的α-galactosidase A (α-gla) 缺乏引起.
- 这种缺乏导致葡萄糖脂的积累,导致逐渐的器官损伤和寿命缩短.
- 及时诊断和治疗对于预防不可逆转的并发症至关重要,但由于临床异质性,FD诊断往往会延迟.
相关概念视频
01:10Nephrons
2.6K
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...
2.6K
01:20Renal Corpuscle
2.4K
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...
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...
2.4K
01:17Factors Affecting Renal Clearance: Renal Impairment
100
Renal dysfunction significantly impairs the renal clearance of drugs, leading to potential complications in drug therapy. Renal failure, which can be caused by various factors, poses a significant challenge in the elimination of drugs from the body.
One condition associated with renal failure is uremia. Uremia is characterized by impaired glomerular filtration and fluid accumulation in the body. This condition hinders the renal clearance of drugs, resulting in drug accumulation and potential...
One condition associated with renal failure is uremia. Uremia is characterized by impaired glomerular filtration and fluid accumulation in the body. This condition hinders the renal clearance of drugs, resulting in drug accumulation and potential...
100
01:25Ultrasound II: Endoscopic Ultrasound and FibroScan
115
Endoscopic Ultrasound (EUS) and FibroScan are valuable diagnostic tools in gastroenterology and hepatology, each with specific applications and techniques.
Endoscopic Ultrasound (EUS):
Endoscopic Ultrasound (EUS):
115
01:24Renal Tubule and Collecting Duct
1.0K
The renal tubule is divided into three parts: the proximal convoluted tubule (PCT), the Loop of Henle (LOH), and the distal convoluted tubule (DCT).
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
1.0K