相关实验视频
Updated: Jun 30, 2025

06:33
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
7.7K
自体主导性慢性管间膜性脏病:不要忘记粉样粉症
1Department of Nephrology and French Reference Center for AL Amyloidosis and Disorders Related to Monoclonal Immunoglobulin Deposits, CHU de Poitiers and Université de Poitiers, Poitiers, France; Centre National de la Recherche Scientifique UMR 7276, Institut National de la Santé et de la Recherche Médicale UMR 1262, CHU Limoges, Limoges, France.
Kidney international
|March 22, 2024
概括
自体主导性髓性粉样性粉症是一种罕见的遗传性病,现在由于阿波利波蛋白A4变体而被描述为. 这种情况导致病进展缓慢,蛋白尿少.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學.
- 遗传学 遗传学 是一个
- 病理学 病理学 病理学
背景情况:
- 氨基化症是遗传性病的一个不常见的原因.
- 大多数已知的变种主要影响质细胞.
- 遗传性管间隙性疾病往往会带来诊断上的挑战.
研究的目的:
- 报告第一个对自体主导性髓性粉症的描述.
- 为了确定涉及阿波利波蛋白A4变异的遗传原因.
- 描述这种罕见的病的临床和病理特征.
主要方法:
- 用于基因分析的下一代测序.
- 组织病理学检查包括刚果红色染色.
- 质谱测量用于蛋白质识别.
主要成果:
- 鉴定与阿波利波蛋白A4变异相关的自体主导性髓性粉样化症.
- 慢性病缓慢进展的临床表现,蛋白尿少.
- 在髓中粉样蛋白沉积的证明.
结论:
- 阿波利波蛋白A4变异是一种新发现的遗传性病的原因.
- 自体主导性髓性粉症潜伏地呈现出最小的蛋白尿.
- 综合诊断方法,包括遗传学和组织病理学分析,对于罕见的遗传性管间隙性疾病至关重要.
相关概念视频
Amyloid Fibrils
9.5K
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,...
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...
9.5K
Nephrons
2.4K
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...
2.4K
Chronic Pancreatitis I: Introduction
87
The pancreas, an elongated and flat gland situated behind the stomach, serves a vital function in digesting food and managing blood sugar levels.
Pancreatitis is the inflammation of the pancreas, which occurs when the immune system becomes active and causes swelling, pain, and disruptions in organ function. Pancreatitis can manifest as either an acute or chronic condition.
Acute pancreatitis arises suddenly and lasts for a brief duration, while chronic pancreatitis is a long-term affliction...
Pancreatitis is the inflammation of the pancreas, which occurs when the immune system becomes active and causes swelling, pain, and disruptions in organ function. Pancreatitis can manifest as either an acute or chronic condition.
Acute pancreatitis arises suddenly and lasts for a brief duration, while chronic pancreatitis is a long-term affliction...
87
Alzheimer's Disease: Overview
469
Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...
469
Renal Tubule and Collecting Duct
963
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...
963
Renal Corpuscle
2.0K
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...
2.0K

