自体主导阿尔波特综合征诊断在一个老年男性
Reza Khorsan1, Farid Arman1, Mrinalini Sarkar1
1Medicine/Nephrology, University of California Los Angeles, Los Angeles, USA.
Cureus
|November 19, 2025
概括
自体主导的阿尔波特综合征 (ADAS) 是一种罕见的遗传性病,在慢性病患者中经常错过. 基因检测对于诊断由COL4A3/COL4A4基因突变引起的ADAS至关重要.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學.
- 遗传学 遗传学 是一个
- 罕见疾病 罕见疾病
背景情况:
- 自体主导的阿尔波特综合征 (ADAS) 是一种罕见的遗传性脏疾病.
- 它通常呈现为来源不明的慢性病,导致诊断延迟.
- ADAS是由COL4A3和COL4A4基因中的异构基因突变引起的.
研究的目的:
- 介绍一个78岁的老人被诊断患有ADAS的病例.
- 讨论ADAS的临床表现和诊断挑战.
- 为了澄清围绕阿尔波特综合征的术语.
主要方法:
- 案例报告的呈现方式.
- 在科诊所进行临床评估.
- 对遗传基础的讨论 (COL4A3 / COL4A4突变).
主要成果:
- 一名78岁的男性患者被诊断出患有ADAS.
- 阿尔波特综合征的临床表现是可变的,通常比其他类型的阿尔波特综合征更温和.
- 确定了诊断挑战和术语问题.
结论:
- 诊断ADAS需要特定的基因测试,特别是在无法解释的慢性病.
- 早期和准确的ADAS诊断对于患者管理至关重要.
- 对阿尔波特综合征的术语标准化是必要的,以改善识别和护理.
相关概念视频
Nephrotic Syndrome II : Assessment and Medical Management
184
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...
184
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
330
Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
330
Alzheimer's Disease: Overview
1.6K
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...
1.6K
Nephrotic Syndrome I : Introduction
476
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...
476
Pedigree Analysis
88.7K
Overview
88.7K


