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Cystic Fibrosis

Cystic fibrosis is a progressive disorder in which the body produces abnormally thick, sticky mucus that accumulates in the internal organs, especially the lungs and digestive system, leading to frequent respiratory infections, breathing difficulties and poor digestion.

If you have just received a diagnosis there is help and support available - please see ‘Further information and support’ below for links to valuable resources. It is also important to note that not every person with this condition experiences all the symptoms described and it is worth talking to your doctor or other relevant healthcare specialists to discuss you or your family member’s individual case.

Inheritance

Cystic fibrosis is an autosomal recessive condition.

Prevalence

Cystic fibrosis is one of the most common life-threatening genetic disorders.

The carrier frequency in the Ashkenazi Jewish population is approximately 1 in 25 to 1 in 29, which is no more common than in other Caucasian populations.

Symptoms

Cystic fibrosis affects a number of organs, particularly the lungs and pancreas. Disease expression varies across affected individuals, however, some common signs and symptoms include:

  • Persistent coughing, at times with mucus
  • Frequent lung infections
  • Wheezing or shortness of breath
  • Poor growth/weight gain in spite of a good appetite
  • Very salty-tasting skin
  • Chronic diarrhea or difficulty in bowel movements
  • Infertility common in men and reduced fertility sometimes found in women

Other cystic fibrosis-related complications can include diabetes, liver disease, and brittle bones. 

Please click on the titles to open and close the following information sections.

This disorder is caused by mutations in the CFTR gene responsible for controlling the movement of salt in the body. As a result, the body produces thick, sticky mucus which accumulates in the lungs, digestive system and other internal organs causing infections and inflammation and progressive lung damage. 

There is currently no cure for cystic fibrosis but a lot of research has and continues to be done to develop new and effective treatments. Available treatments address existing complications and try to prevent future ones and include: chest physiotherapy; taking antibiotics, inhalation treatments, and anti-inflammatory medication; having enriched diets and taking enzyme tablets with food to aid digestion.

Advances in research and medical treatments have enhanced and extended life for children and adults with cystic fibrosis. Though the condition can sometimes be fatal in childhood, many people with the disorder now live into their 20s, 30s, and 40s.

Cystic fibrosis can be diagnosed using a sweat test (individuals with the disorder have an increased amount of salt in their sweat), or through genetic testing.

In the UK, all newborn babies are screened for cystic fibrosis using a heel-prick test to sample blood. It is also possible to have prenatal testing and carrier testing for cystic fibrosis.

Over 1000 mutations have been identified that can cause cystic fibrosis, however a specific set of only 6-8 mutations have been found to detect approximately 98% of cases of cystic fibrosis in Ashkenazi Jews.

For more details about testing, please refer to the testing section.

The Cystic Fibrosis Trust

This is the UK’s only national charity dedicated to all aspects of Cystic Fibrosis (CF). It funds research to treat and cure CF and is dedicated to ensuring appropriate clinical care and support for people with CF. It provides many services including a helpline, publications and welfare grants. This site also contains a forum for patient and carer support and information.

Switchboard: 020 8464 7211
Helplines: Support - 0300 373 1000; Benefits - 0300 373 1010; Welfare - 0300 373 1020

Cystic Fibrosis Foundation (USA)

This American foundation works to provide support for individuals and families affected by cystic fibrosis. It is involved in research and education initiatives and has an information website.

Cystic Fibrosis Worldwide (Global)

This organisation aims to provide education, training, supplies, and resources to all parts of the world affected by CF so as to improve the quality of life of those affected by the disease. It has 52 member countries.

Cystic Fibrosis Voice

This is an online community for those of all ages affected by Cystic Fibrosis.

To find out more about general resources relevant to Jewish genetic disorders, please visit our resources and support section.

 

Written by Jnetics.
Approved by Dr Ranjan Suri, Paediatric Respiratory Consultant, Great Ormond Street Hospital for Children NHS Foundation Trust.
Last review: 17.12.2014