相关实验视频
Updated: Jun 18, 2025

06:08
A Novel Method: Super-selective Adrenal Venous Sampling
Published on: September 15, 2017
23.4K
[上腺功能不充分是X结合上腺细胞衰竭的一部分]
S R Enikeeva1, I S Chugunov1, M A Kareva1
1Endocrinology Research Centre.
概括
在X-ALD (X-linked adrenoleukodystrophy) 中早期诊断上腺功能不足 (AI) 是非常重要的. 评估蛋白水平和家族病史有助于及时检测和治疗X-ALD患者的AI.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 与X相关的 adrenoleukodystrophy (X-ALD) 是一种严重的神经退行性代谢障碍,影响1:17,000名新生男婴.
- 上腺功能衰竭 (AI) 在70-80%的X-ALD患者中发生,如果不治疗,可能危及生命.
- 人工智能发病的预测因素缺乏,因此需要在X-ALD中研究人工智能,以优化诊断和治疗.
研究的目的:
- 调查X链 adrenoleukodystrophy中原发性上腺功能缺陷的诊断和治疗特征.
- 为了优化AI在X-ALD患者的管理.
主要方法:
- 一项追溯观察性比较研究,对66名患有遗传确认X-ALD和原发性AI的男性患者进行.
- 2014-2022年期间在俄罗斯莫斯科内分泌学研究中心收集的数据.
- 分析包括AI诊断的年龄,蛋白水平,家族病史,疾病亚型 (cALD,AMN,PAI) 和治疗开始.
主要成果:
- X-ALD表现的平均年龄为6.6岁;AI早在1.5岁 (临床前) 或1岁8个月 (临床) 时就被诊断出来.
- 在7/15名患者中发现矿物甲类皮质缺乏症,评估了素. 39.4%的家庭病史呈阳性;只有15.1%的临床前诊断.
- 在亚型之间,AI发病年龄有显著差异:AMN (15.6岁) 与cALD (7.4岁) 和PAI (5.6岁). 组合激素治疗因亚型而异.
结论:
- 所有患有AI的男性患者都需要X-ALD查,而X-ALD患者不论年龄都需要AI查.
- 雷宁水平的评估对于及时启动矿物质皮质醇治疗至关重要.
- 家庭病史是检测X-ALD在临床前阶段的关键.
相关概念视频
Adrenal Gland Disorders
1.4K
Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
1.4K
Sex-linked Disorders
101.9K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
101.9K
Lysosomal Hydrolases
3.8K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.8K
Hormones of the Adrenal Glands
2.3K
Adrenal hormones play a pivotal role in maintaining the body's electrolyte balance and orchestrating responses to stress, showcasing the intricate functions of the adrenal cortex and medulla.
The adrenal cortex, a powerhouse of hormone synthesis, generates over two dozen corticosteroid hormones. The zona glomerulosa produces mineralocorticoids, exemplified by aldosterone, influencing the electrolyte composition of body fluids. The synthesis of glucocorticoids such as cortisol and...
The adrenal cortex, a powerhouse of hormone synthesis, generates over two dozen corticosteroid hormones. The zona glomerulosa produces mineralocorticoids, exemplified by aldosterone, influencing the electrolyte composition of body fluids. The synthesis of glucocorticoids such as cortisol and...
2.3K
Alzheimer's Disease: Overview
456
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...
456
Immunodeficiency Diseases
929
Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency...
There are three main causes of immunodeficiency...
929

