相关实验视频
Updated: Jun 12, 2025

06:08
A Novel Method: Super-selective Adrenal Venous Sampling
Published on: September 15, 2017
23.3K
显而易见的矿物质皮质类皮质过量综合征:病例报告
Saad Aqeel Alsaadoun1, Ameinah Thamer Alrasheedi2, Seham Hossny Gazar3
1Division of Nephrology, Department of Pediatrics, King Saud Hospital, Unayzah, Saudi Arabia.
International medical case reports journal
|June 9, 2025
概括
显而易见的矿物甲基皮质过量 (AME) 综合征是一种罕见的遗传高血压疾病,通过全外组测序在两名儿童身上被确定. 用螺旋,化和甲治疗改善了他们的病情.
科学领域:
- 遗传学 是一个遗传学.
- 内分泌学 在内分泌学.
- 儿科 儿科 儿科
背景情况:
- 显而易见的矿物皮质过量 (AME) 综合征是一种罕见的自体相衰退性疾病.
- 它是由11b-hydroxysteroid脱酶2型 (HSD11B2) 基因的突变引起的.
- 诊断是具有挑战性的,因为它的稀有性.
研究的目的:
- 报告在血缘亲属家庭中发生的两例儿科AME综合征病例.
- 突出整体外体序列测序 (WES) 的诊断实用性.
- 讨论AME综合征的有效治疗策略.
主要方法:
- 对患有高血压,低血和代谢性性病的儿科患者的临床评估.
- 整体外体测序 (WES) 用于识别遗传突变.
- 用螺旋,化和低剂量德克萨米他治疗.
主要成果:
- 在来自血缘关系家庭的儿童中诊断出两例AME综合征.
- 在HSD11B2基因中,WES发现了一种同胞错觉的致病突变 (c.622C>T p.
- 联合治疗导致血压和电解质水平显著改善.
结论:
- 这份病例报告增加了对AME综合征的有限数据,特别是在沙特阿拉伯.
- WES是诊断罕见的遗传疾病的宝贵工具,如AME综合征.
- 包括德克萨米他在内的组合疗法可能有效治疗AME综合征.
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
Nephrotic Syndrome II : Assessment and Medical Management
2
IntroductionNephrotic syndrome is a kidney disorder marked by excessive protein loss in the urine, leading to various systemic complications. This condition often results from damage to the glomeruli—the kidney's filtering units—causing proteinuria, low blood protein levels, and fluid retention. Understanding the assessment, diagnosis, and management of nephrotic syndrome is essential for effective treatment and prevention of further kidney damage.AssessmentPatient History: Document...
2
Antihypertensive Drugs: Potassium-Sparing Diuretics
469
Liddle syndrome is a genetically inherited form of hypertension characterized by the overactivity of epithelial sodium channels in the nephron, the functional unit of the kidney. This heightened activity leads to increased sodium reabsorption and excessive excretion of potassium. To counteract this, potassium-sparing diuretics such as amiloride are used. They function by blocking these sodium channels, thereby reducing the influx of sodium into the epithelial cells and minimizing the loss of...
469
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
Nephrotic Syndrome I : Introduction
2
Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
2
Chronic Kidney Disease II: Clinical Manifestations
2
Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
2

