一个叙述性综述的单一性疾病导致结石病和慢性病的叙述性综述
Farahnak Assadi1, Toktam Faghihi2
1Department of Pediatrics, Division of Nephrology, Rush University Medical Center, Chicago, Illinois, USA.
Nephrology (Carlton, Vic.)
|November 5, 2024
概括
遗传疾病越来越多地与慢性病 (CKD) 有关. 确定儿童结石的单一原因对于早期诊断和预防末期病 (ESKD) 至关重要.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學專業.
- 医学遗传学 医学遗传学
- 遗传学 是一个遗传学.
背景情况:
- 与慢性病 (CKD) 相关的遗传疾病的发病率正在上升.
- 单源性疾病越来越多地被认为是结石和CKD的重要原因.
- 识别这些遗传联系对于患者管理和了解疾病进展至关重要.
研究的目的:
- 确定导致结石 (结石) 和慢性病 (CKD) 的单基因基因.
- 审查与CKD和末期病 (ESKD) 相关的遗传性病的文献.
主要方法:
- 进行了全面的文献审查.
- 确定了结石病的单一原因及其与CKD的关联.
- 分析了可能导致尿病的遗传性病及其CKD相关性.
主要成果:
- 确定了41种可识别的单一性腎石病因.
- 原发性高氧化尿,家族性低磁性血与高性尿和性尿,囊性尿,丹特病,APRT缺乏,莱什-尼汉综合征和婴儿高性尿与CKD有关,可能进展为ESKD.
- 自体主导性低血症和巴特综合征很少与CKD有关,尽管一些巴特综合征III型病例可能因CKD而复杂.
结论:
- 许多患有遗传性疾病的结石患者会发展为CKD.
- 基因诊断应在所有患有结石的儿童中进行.
- 早期的遗传鉴定可以帮助管理遗传性病并预防CKD的进展.
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
11.5K
09:40Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells
Published on: June 20, 2018
17.4K
相关概念视频
Nephrons
2.2K
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...
2.2K
Disorders of the Urinary System
239
The urinary system is responsible for eliminating waste and excess fluids from the body. However, disorders of the urinary system can arise due to various reasons like infections, stress, age, congenital abnormalities, and lifestyle.
Urinary tract infections (UTIs) are one of the most common urinary system disorders. They are caused by bacteria that enter the urethra and can spread to the bladder resulting in cystitis. Pyelonephritis is the result of a UTI that has ascended to the level of the...
Urinary tract infections (UTIs) are one of the most common urinary system disorders. They are caused by bacteria that enter the urethra and can spread to the bladder resulting in cystitis. Pyelonephritis is the result of a UTI that has ascended to the level of the...
239
Renal Tubule and Collecting Duct
818
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...
818
Renal Corpuscle
1.7K
The glomerulus and Bowman's capsule are two essential components of the nephron, which is the functional unit of the kidney. These microscopic structures play a critical role in the process of blood filtration to produce urine.
Glomerulus: Structure and Function
The glomerulus is a tiny, intricate network of capillaries located at the beginning of the nephron. It's enveloped by the Bowman's capsule and receives its blood supply from an afferent arteriole, which divides into numerous...
Glomerulus: Structure and Function
The glomerulus is a tiny, intricate network of capillaries located at the beginning of the nephron. It's enveloped by the Bowman's capsule and receives its blood supply from an afferent arteriole, which divides into numerous...
1.7K
Kidney Structure
68.9K
The kidneys are two large bean-shaped organs located in the upper abdomen. They filter the blood several times a day to remove toxins and rebalance water and electrolytes of the circulatory system via the renal veins. The kidneys receive blood directly from the heart via the renal arteries. These arteries enter the kidney at the hilum, the concave surface of the bean, where they branch and divide into smaller vessels and capillaries.
68.9K
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
