What is Cystic Fibrosis and what causes it? (Definition)

Cystic fibrosis is a progressive, inherited genetic disease or disorder that causes severe lung damage and limits the ability to breathe over time. The disease can also cause damage to the digestive system and other organs within the body including the pancreas, liver, kidneys, and intestine. Essentially, cystic fibrosis affects the cells that produce mucus, sweat and digestive juices. These secreted fluids are normally thin and slippery, however in people with cystic fibrosis, a defective gene causes the secretions to become sticky and thick. Instead of acting as a lubricant, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas. In the lungs, the mucus clogs the airways and traps bacteria leading to infections, extensive lung damage and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients.

CF is inherited in an autosomal recessive manner. The disease is caused by the presence of mutations in both copies of the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. People with CF have inherited two copies of the defective CF gene – one copy from each parent. Those with a single working copy are carriers and otherwise mostly normal. The condition is diagnosed by a sweat test and genetic testing.

Cystic Fibrosis Symptoms

Symptoms and signs of Cystic fibrosis will often vary, depending on the severity of the disease. Even in the same person, symptoms may worsen or improve as time passes. Some people may not experience symptoms until adolescence or adulthood.

The main signs and symptoms of cystic fibrosis are salty-tasting skin (people with cystic fibrosis have a higher than normal level of salt in their sweat), poor growth, and poor weight gain despite normal food intake, accumulation of thick, intestinal blockage (particularly in newborns -meconium ileus), sticky mucus, frequent lung infections including pneumonia or bronchitis, coughing or shortness of breath, inflamed nasal passages or a stuffy nose and frequent greasy, bulky stools or difficulty with bowel movements. Males can be infertile due to congenital absence of the vas deferens.

For more information regarding Cystic Fibrosis symptoms and treatments, please visit the Cystic Fibrosis Foundation website.

See below for updated news and information regarding Cystic Fibrosis including new medical research, treatment options and advancements. 

Latest Cystic Fibrosis News

Updated cystic fibrosis diagnosis guidelines can help in diagnosis, personalized treatment

(SOURCE: JOHNS HOPKINS MEDICINE) - An international research group of 32 experts from nine countries has updated the guidelines for diagnosing the genetic disease cystic fibrosis. The researchers expect that these guidelines will provide better direction for clinicians looking at patients with symptoms of the disease to make a correct diagnosis and recommend personalized treatment. A report of the updated ...
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Top research priorities for cystic fibrosis treatments revealed

(SOURCE: UNIVERSITY OF NOTTINGHAM) - Future research has the potential power to transform treatments for cystic fibrosis. Yet patients with the condition – and the people who care for them – have traditionally had little say in where studies should focus their efforts. Now a partnership led by academics at The University of Nottingham has offered a voice to people affected ...
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Fibrosis Research: Oddly shaped immune cells cause fibrosis

(SOURCE: OSAKA UNIVERSITY) - Fibrosis is a form of scarring that could if uncontrolled cause deleterious thickening of tissues. Although it is known that fibrosis is caused by an activated immune system, which specific cells are responsible continuous to elude researchers. Scientists at IFReC may have found this subgroup, as they report in Nature a class of monocyte cells with strange ...
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Cystic Fibrosis Research News: Bacterial ‘Sabotage’ Handicaps Ability to Resolve Devastating Lung Inflammation in Cystic Fibrosis

(SOURCE: UNIVERSITY OF PITTSBURGH SCHOOLS OF THE HEALTH SCIENCES) - The chronic lung inflammation that is a hallmark of cystic fibrosis, has, for the first time, been linked to a new class of bacterial enzymes that hijack the patient’s immune response and prevent the body from calling off runaway inflammation, according to a laboratory investigation led by the University of Pittsburgh School ...
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Cystic Fibrosis Research News: First structural map of the cystic fibrosis protein sheds light on how mutations cause disease

(SOURCE: THE ROCKAFELLER UNIVERSITY) Rockefeller scientists have created the first three-dimensional map of the protein responsible for cystic fibrosis, an inherited disease for which there is no cure. This achievement, described December 1 in Cell, offers the kinds of insights essential to better understanding and treating this often-fatal disease, which clogs the lungs with sticky mucus, leading to breathing problems ...
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Cystic Fibrosis News: Study Shows Multi-drug Resistant Infection Spreading Among Cystic Fibrosis Patients

(UNIVERSITY OF CAMBRIDGE) According to a recent press release, a multi-drug resistant infection that can cause life-threatening illness in people with cystic fibrosis (CF) and can spread from patient to patient has spread globally and is becoming increasingly virulent, according to new research published today in the journal Science ...
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FDA Approvs Orkambi for Cystic Fibrosis Treatment in Children with Two Copies of F508del Mutation

(Healio) According to an article recently published in Healio, Vertex Pharmaceuticals announced the FDA approval of Orkambi for treatment of cystic fibrosis in children aged 6 to 11 years who have two copies of the F508del mutation, according to a news release ...
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Sputum and Throat Swabs Cystic Fibrosis Patients Can Some Common Lung Infections

(Cystic Fibrosis News Today) According to an article posted in Cystic Fibrosis News Today, a recent study has shown that sputum and throat swabs of adult cystic fibrosis patients can help identify Pseudomonas aeruginosa and Staphylococcus aureuslung infections ...
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Study Shows Pulmatrix’s Inhaled Drug Delivery Platform Delivers Higher Doses of Antifungal Drug to Lungs

Cystic fibrosis: (PR Newswire) According to a recent press release, "The preclinical study comparing PUR1900 to the oral reference product shows that PUR1900 offers a significant advantage over the current standard of care for treating fungal infections in the lungs," said David Hava, Ph.D., Chief Scientific Officer for Pulmatrix ...
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