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Related Concept Videos

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 Solutes01:23

Transcellular Transport of Solutes

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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 Transporters01:27

Glucose Transporters

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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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Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis

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Cystic fibrosis.

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.

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|June 6, 2021
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Summary
This summary is machine-generated.

Cystic fibrosis (CF) is a genetic disorder caused by CFTR gene mutations. New modulator drugs are transforming treatment by restoring CFTR protein function, improving outcomes for patients.

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Area of Science:

  • Genetics and Molecular Biology
  • Pulmonology
  • Gastroenterology

Background:

  • Cystic fibrosis (CF) is a monogenic disease affecting over 100,000 people globally.
  • Mutations in the CFTR gene impair ion transport, leading to mucus buildup and organ damage.
  • Clinical manifestations include chronic lung infections, pancreatic insufficiency, and comorbidities like CF-related diabetes.

Purpose of the Study:

  • To review the current understanding of CFTR mutations, protein function, and disease pathophysiology.
  • To evaluate current management strategies for cystic fibrosis.
  • To explore future directions in multidisciplinary care and emerging therapies.

Main Methods:

  • Literature review of CFTR gene mutations and their impact on protein function.
  • Analysis of current treatment modalities, including supportive care and emerging therapies.
  • Discussion of diagnostic approaches and disease progression.

Main Results:

  • CFTR gene mutations are the underlying cause of cystic fibrosis, affecting ion channel function.
  • Current management improves life expectancy but does not fully restore CFTR function.
  • Small molecule modulator drugs represent a significant advancement in CFTR function restoration.

Conclusions:

  • CFTR modulator therapies are revolutionizing cystic fibrosis treatment.
  • Continued research into novel therapeutic approaches is crucial for improving long-term outcomes.
  • Multidisciplinary care is essential for managing the increasing adult population with cystic fibrosis.