结核性硬化与自身主导性多囊性病 (ADPKD) 一起出现:一种罕见的呈现形式
Pushpendra Singh Sengar1, Amit Saxena1, Anurag Jain1
1Department of Medicine, Bundelkhand Medical College and Hospital, Sagar, Madhya Pradesh, India.
Bioinformation
|August 18, 2025
概括
结核性硬化综合体 (TSC) 和自身主导性多囊性病 (ADPKD) 是罕见的遗传性疾病. 染色体16上TSC-2/PKD-1连续基因的大量删除可以同时导致这两种情况.
科学领域:
- 遗传学 是一个遗传学.
- 腎臟病學 (nephrology) 是一種醫學專業.
- 神经学 神经学
背景情况:
- 结核性硬化综合体 (TSC) 和自身主导性多囊性病 (ADPKD) 是不同的遗传疾病.
- 虽然很少见,但TSC和ADPKD的同时发生是一个公认的现象.
- 这种关联源于16号染色体上的大量删除,包括TSC-2和PKD-1基因,称为TSC-2/PKD-1连续基因综合征.
研究的目的:
- 报告一种罕见的同时发生的结核性硬化综合体和自体主导多囊性脏病的罕见病例.
- 突出TSC-2/PKD-1连续基因综合征的遗传基础和临床表现.
- 强调综合诊断评估在患者的重叠表型的重要性.
主要方法:
- 一个19岁的男性的案例介绍.
- 临床评估,包括对出血症和结核性硬化现象型的评估.
- 使用腹部超声波 (USG) 和头部和腹部计算机断层扫描 (CT) 的诊断成像.
主要成果:
- 患者呈现出血和与结核性硬化综合体一致的表型.
- USG腹部揭示了双边多重囊,表明ADPKD.
- CT扫描检测出特征性TSC的子末端结节,以及囊.
结论:
- 该案例说明了由于TSC-2/PKD-1连续基因综合征导致TSC和ADPKD同时发生的罕见情况.
- 综合诊断方法对于识别复杂遗传综合征至关重要.
- 对于患有TSC-2/PKD-1连续基因综合征的患者来说,早期识别和管理至关重要.
关键词:
这就是TSC2-PKD1连续基因综合征.结核性硬化综合体 (TSC) 是一种复杂的疾病.自体主导多囊性病 (ADPKD) 是一种自体主导的多囊性病.遗传性综合征 遗传性综合征神经皮肤综合征的神经皮肤综合征脏囊 脏囊是什么?这是脏表现的表现.更多相关视频
08:46Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
Published on: September 1, 2015
9.9K
12:47Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
Published on: February 3, 2012
38.6K
相关概念视频
Nephrons
3.4K
The kidneys are intricate organs with millions of working units known as nephrons. Each nephron features two major structures: the renal corpuscle, which facilitates blood plasma filtration, and the renal tubule, which handles the glomerular filtrate. Blood supply is directly linked to the nephrons. The renal corpuscle consists of the glomerulus, a capillary network, and the Bowman's capsule, a double-walled epithelial structure that encases the glomerulus. The filtering of blood plasma...
3.4K
Chronic Kidney Disease I: Introduction
67
Chronic Kidney Disease (CKD) arises when the kidneys progressively lose their ability to function, ultimately leading to end-stage renal disease. At this advanced stage, the kidneys can no longer filter waste or maintain essential body functions, requiring renal replacement therapy (RRT) through dialysis or a kidney transplant for survival.Early-stage chronic kidney disease and detection challengesIn CKD's early stages, symptoms often remain absent because healthy nephrons compensate for...
67
Chronic Kidney Disease II: Clinical Manifestations
87
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...
87
Renal Tubule and Collecting Duct
1.5K
The renal tubule is divided into three parts: the proximal convoluted tubule (PCT), the Loop of Henle (LOH), and the distal convoluted tubule (DCT).
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...
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...
1.5K
Pedigree Analysis
85.1K
Overview
85.1K
External Anatomy of the Kidney
1.6K
The kidneys are a pair of bean-shaped organs in the human body that play a critical role in maintaining overall health. They filter out waste products from the blood, regulate blood pressure, maintain electrolyte balance, and stimulate the production of red blood cells.
The kidneys are located in the retroperitoneal space on either side of the vertebral column, protected posteriorly by the 11th and 12th ribs. The right kidney sits slightly lower than the left owing to the presence of the liver...
The kidneys are located in the retroperitoneal space on either side of the vertebral column, protected posteriorly by the 11th and 12th ribs. The right kidney sits slightly lower than the left owing to the presence of the liver...
1.6K
