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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.
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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

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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.

Susanne Naehrig1, Cho-Ming Chao, Lutz Naehrlich

  • 1*Joint and equal first authors; Medizinische Klinik V (Pneumology), LMU University of Munich, Pneumology, Medizinische Klinik Innenstadt, University of Munich; Department of Pediatrics, Justus-Liebig-University Gießen.

Deutsches Arzteblatt International
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Summary
This summary is machine-generated.

Universal newborn screening for cystic fibrosis in Germany improves early diagnosis and treatment. Optimized care and new therapies are extending patient lifespans and enhancing quality of life.

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Area of Science:

  • Medical Genetics
  • Pediatric Pulmonology
  • Public Health

Background:

  • Cystic fibrosis (CF) is a genetic disorder caused by CFTR gene mutations.
  • It affects multiple organ systems, including lungs and pancreas.
  • Universal newborn screening for CF began in Germany in September 2016.

Purpose of the Study:

  • To provide updated information on cystic fibrosis diagnosis, treatment, and prognosis.
  • To highlight the impact of universal newborn screening.

Main Methods:

  • Literature review of PubMed publications.
  • Analysis of national and international CF guidelines.
  • Inclusion of systematic reviews.

Main Results:

  • CF diagnosis requires clinical evidence and CFTR dysfunction confirmation (sweat chloride, genetic testing, electrophysiology).
  • Median lifespan for CF patients has increased to 40 years.
  • Mutation-specific therapies are now available.

Conclusions:

  • Early diagnosis and optimized treatment improve quality of life and survival for CF patients.
  • Further research is needed on causal treatments and their long-term effects.