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Cystic fibrosis (CF) is a relatively common inherited disease in which from infancy there are recurrent chest infections causing lung damage, intestinal malabsorption leading to severe malnutrition and growth failure, and there is an excess of salt in the sweat. Untreated, the condition is usually fatal in infancy or early childhood. With treatment, the average life expectancy of people who live to adulthood is about 37 years and this is increasing.
The disease is caused by in a pair of located on chromosome 7. Every cell in the body (except the sex cells) has 46 (23 pairs - one of each pair inherited from the mother and the other from the father). Genes on these chromosomes form the body’s blueprint for producing that control body functions. There is a gene on each number 7 chromosome that is responsible for the production of a protein called cystic fibrosis transmembrane regulator (CFTR). Mutations in this gene lead to absent or defective CFTR production, causing CF. More than 2,000 different CF mutations have been identified, although some are much more common than others, F508del (previously known as deltaF508) being the most common.
Since CF is , an affected individual must have a mutation in each CFTR gene on each chromosome 7 in order to have the disease (one abnormal copy from each parent.) Someone with only one mutation (inherited from one parent) and one working copy of the gene will be a CF . Carriers do not have symptoms of the disease but they may pass on the non-working copy of the gene to their children. Both parents must be carriers or one parent be a carrier and the other have CF in order for their child to have CF. Caucasians from Northern Europe and Ashkenazi Jews have the world's highest population carrier rates (about 1 in 20-25).
Having CF means the absence of, or defective production and function of CFTR. This leads to abnormal electrolyte and water movement in and out of the epithelial cells (the cells that line most body cavities). It results in thick, sticky mucus in the lungs and pancreas leading to respiratory infections and/or obstructed pancreatic and liver ducts leading to impaired fat and protein digestion. The majority of males with CF are also infertile due to missing or underdeveloped vas deferens (the tubules that transport sperm from the testes). Most people with CF will develop respiratory and pancreatic symptoms very early in life, although symptom severity will vary from person to person, even in those with the same mutations.
CF is one of the most common recessive genetic disorders in people of European origin. Currently, there is no prevention or cure, only treatment of the symptoms. However, research is being conducted to develop a cure and to enhance treatments. In fact, great strides in this effort have been made over the past 30 years with improvements in diagnosis, delivery of care, and treatment modalities, such that the median life expectancy is now 37 years. With the increasing life span, however, liver dysfunction is becoming more prevalent.
Last Review Date: July 29, 2016