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相关概念视频

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
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Cystic Fibrosis: Management01:24

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Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
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Transcellular transport of solutes is the movement of substances like monosaccharides and amino acids through polarized cells. This transport mechanism is primarily seen in epithelial and endothelial cells aided by membrane transport proteins such as channels and transporters. The tight junctions between these cells confine the membrane proteins to the two sides of the cell. The epithelial cells have distinct apical and basolateral domains. In contrast, the endothelial cells show the luminal...
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Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
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Chronic obstructive pulmonary disease (COPD) is a group of lung conditions that progressively worsen over time, including chronic bronchitis and emphysema. This cluster of diseases collectively leads to a gradual and irreversible decline in lung function over time.
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Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
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囊性纤维化

Michal Shteinberg1, Iram J Haq2, Deepika Polineni3

  • 1Pulmonology Institute and CF Center, Carmel Medical Center, Haifa, Israel; Rappaport Faculty of Medicine, The Technion-Israel Institute of Technology, Haifa, Israel.

Lancet (London, England)
|June 6, 2021
PubMed
概括

囊性纤维化 (CF) 是由CFTR基因突变引起的遗传性疾病. 新的调节剂药物通过恢复CFTR蛋白的功能, 改善患者的治疗结果.

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科学领域:

  • 遗传学和分子生物学
  • 肺病学
  • 胃肠病学

背景情况:

  • 囊性纤维化 (CF) 是一种单一的疾病,影响全球超过10万人.
  • 在CFTR基因突变损害离子运输,导致粘液积累和器官损伤.
  • 临床表现包括慢性肺部感染,胰腺衰竭和与CF相关的糖尿病等并发症.

研究的目的:

  • 审查目前对CFTR突变,蛋白质功能和疾病病理生理学的理解.
  • 评估目前的囊性纤维化治疗策略.
  • 探索多学科护理和新兴疗法的未来方向.

主要方法:

  • 对CFTR基因突变及其对蛋白质功能的文献综述.
  • 分析目前的治疗方式,包括支持性护理和新兴疗法.
  • 对诊断方法和疾病进展进行讨论.

主要成果:

  • CFTR基因突变是囊性纤维化的根本原因,影响离子通道功能.
  • 目前的治疗改善了预期寿命, 但不能完全恢复CFTR功能.
  • 小分子调节剂药物在CFTR功能恢复方面取得了重大进展.

结论:

  • CFTR调节剂疗法正在彻底改变囊性纤维化治疗.
  • 持续研究新型治疗方法对于改善长期结果至关重要.
  • 多学科护理对于管理日益增长的囊性纤维化患者群体至关重要.