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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.
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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.
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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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Related Experiment Video

Updated: Mar 11, 2026

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
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[Mucoviscidosis, a challenging medical problem].

E M Esedov1, G A Gadzhimirzaev1, F D Akhmedova1

  • 1Dagestan State Medical Academy, Russian Ministry of Health, Makhachkala, Russia, 367000.

Vestnik Otorinolaringologii
|November 24, 2016
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Summary

This study reviews current data on cystic fibrosis, detailing its pathogenesis, diagnostics, and treatment through a case study of an adult patient. It highlights key aspects of managing this complex genetic disorder.

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Area of Science:

  • Pulmonology and Genetics

Background:

  • Mucoviscidosis, commonly known as cystic fibrosis (CF), is a multi-system genetic disorder.
  • Understanding the pathogenesis of CF is crucial for developing effective therapeutic strategies.

Observation:

  • The study reviews existing data and presents original experience with CF.
  • A clinical case of an adult patient with cystic fibrosis is used as an example.

Findings:

  • The review covers pathogenetic mechanisms, diagnostic approaches, and treatment modalities for CF.
  • Current data and literature are synthesized to provide a comprehensive overview.

Implications:

  • This work aids in understanding and managing cystic fibrosis in clinical practice.
  • Further research into CF pathogenesis and treatment can improve patient outcomes.