Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Cystic fibrosis: present and future

P J Milla1

  • 1Great ormond Street Hospital for Children, and Institute for Child Health, London, UK. P.Milla@ich.ucl.ac.uk

Digestion
|October 10, 1998
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

A practical guide for the diagnosis of primary enteric nervous system disorders.

Journal of pediatric gastroenterology and nutrition·2013
Same author

Quantitation of cellular components of the enteric nervous system in the normal human gastrointestinal tract--report on behalf of the Gastro 2009 International Working Group.

Neurogastroenterology and motility·2010
Same author

Systemic vasculitis: a cause of indeterminate intestinal inflammation.

Journal of pediatric gastroenterology and nutrition·2006
Same author

Management of fulminating ulcerative colitis in childhood with chimeric anti-CD25 antibody.

Journal of pediatric gastroenterology and nutrition·2006
Same author

Consumerism in healthcare can be detrimental to child health: lessons from children with functional abdominal pain.

Archives of disease in childhood·2005
Same author

Hypertrophic eosinophilic gastroenteropathy is associated with reduced enterocyte apoptosis.

Histopathology·2005

Cystic fibrosis (CF) is an inherited genetic disorder affecting multiple organs. Early diagnosis and aggressive nutritional and enzyme therapy improve outcomes, but complications like fibrosing colonopathy and end-stage organ disease require further management.

Area of Science:

  • Genetics
  • Gastroenterology
  • Pulmonology

Background:

  • Cystic fibrosis (CF) is a genetic disorder impacting epithelial chloride transport.
  • It primarily affects the pancreas, lungs, gut, and liver.
  • The condition stems from mutations in the cystic fibrosis transmembrane regulator gene on chromosome 7.

Purpose of the Study:

  • To review the genetic basis of CF.
  • To discuss diagnostic applications of genotyping.
  • To outline current and emerging therapeutic strategies.

Main Methods:

  • Genotyping for carrier identification and diagnosis.
  • Analysis of genotype-phenotype correlations.
  • Review of clinical trial data for gene therapy.
  • Evaluation of nutritional and enzyme replacement therapies.

Related Experiment Videos

  • Assessment of outcomes for organ transplantation.

    • Main Results:

    • The D F508 mutation is the most common cause of pancreatic insufficiency in CF.
    • Somatic gene therapy is under investigation but not yet clinically viable.
    • Nutritional and pancreatic enzyme therapy improve growth and survival.
    • High-dose enzyme therapy can lead to fibrosing colonopathy.
    • Transplantation offers hope for end-stage lung and liver disease.

    Conclusions:

    • Genotyping is crucial for CF diagnosis and management.
    • Multifaceted treatment approaches, including nutritional support and enzyme therapy, are vital.
    • Ongoing research into gene therapy and improved management of complications are essential for enhancing patient outcomes.