adrenoleukodystrophy ( adrenoleukodystrophy) 的意思是腺核细胞衰竭,也就是说 adrenoleukodystrophy ( adrenoleukodystrophy) 的意思是腺核细胞衰竭
Marc Engelen1, Stephan Kemp2, Florian Eichler3
1Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, The Netherlands.
链接X的 adrenoleukodystrophy (ALD) 是一种影响脂肪酸代谢的遗传疾病. 虽然造血细胞移植可以阻止大脑ALD,但肌肉病的治疗方法仍然有限.
科学领域:
- 遗传学 是一个遗传学.
- 代谢障碍 代谢障碍 代谢障碍
- 神经学 神经学
背景情况:
- 链接到X的 adrenoleukodystrophy (ALD) 是一种由ABCD1基因突变引起的过氧体疾病.
- 它损害了非常长链脂肪酸β-氧化,导致渐进的神经和上腺并发症.
研究的目的:
- 详细讨论X关联上腺核细胞衰竭的临床谱.
- 概述受影响个体疾病发病和进展的变异性.
主要方法:
- 审查现有的文献和关于X链 adrenoleukodystrophy患者的临床数据.
- 对临床表现的分析,包括上腺功能衰竭,骨髓病和大脑干扰.
主要成果:
- 在男性中,ALD具有可变的临床表型,包括上腺功能衰竭和渐进性骨髓病变.
- 大脑ALD在18岁之前影响了40%的男性;女性通常会经历较轻微的,晚期发作的骨髓病变.
- 造血细胞移植可以阻止大脑ALD的进展,但骨髓病缺少治愈治疗.
结论:
- 艾尔德的临床谱是多样化的,需要量身定制的管理策略.
- 了解ALD进展的变异性对于患者护理和治疗发展至关重要.
更多相关视频
07:35Use 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
09:40Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells
Published on: June 20, 2018
相关概念视频
Lysosomal Hydrolases
Smooth 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...
Inborn Errors of Metabolism
Alzheimer's Disease: Overview
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...
Renal Tubule and Collecting Duct
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...
Parkinson's Disease: Overview
