相关实验视频
Updated: May 10, 2025

06:33
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
7.6K
一场与时间的竞赛失败 - - 一个罕见的AL氨基粉症病例
Inês Conde1, Mónica Dias2, Sofia Fernandes2
1Cardiology Department, Hospital de Braga, São Victor, 4710-243, Braga, Portugal. inescmconde@gmail.com.
Journal of ultrasound
|April 25, 2025
概括
早期诊断心脏粉症对于更好的结果至关重要. 这一案例凸显了AL氨基粉症的延迟诊断如何导致迅速恶化和致命的结局,尽管治疗.
科学领域:
- 心脏病学 心脏病学
- 血液学 血液学 血液学
- 病理学 病理学 病理学
背景情况:
- 心脏粉症是一种罕见的多系统性疾病,患病率和死亡率很高.
- 尽管近期治疗方面取得了进展,但如果没有及时干预,预后仍然很差.
研究的目的:
- 介绍一个AL粉样性粉症病例,重点关注诊断挑战和临床过程.
- 强调早期诊断和干预心脏粉症的重要性.
主要方法:
- 一个52岁的男性心力衰竭症状的病例报告.
- 诊断工作包括心电图,心声学,心脏MRI,实验室测试 (血清/尿液光链),心脏扫描,遗传检测,活检 (唾液,脂肪,骨髓,内心脏).
主要成果:
- 结果表明了透性心肌病变;尿液卡帕光链升高和阳性心脏扫描引发了对粉样性腺瘤的怀疑.
- 内心活检证实了AL氨基粉症 (卡帕轻链).
- 尽管诊断并开始治疗,但由于病情晚期,患者的病情迅速恶化.
结论:
- AL粉样性粉症的特征是来自血细胞的粉样性轻链,可以严重影响心脏.
- 在这种情况下,迟到的诊断导致了快速的进展和致命的结局,这强调了迅速诊断和治疗的必要性.
相关概念视频
Amyloid Fibrils
9.0K
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,...
9.0K
Smooth Endoplasmic Reticulum
5.3K
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
5.3K

