Cystic Fibrosis (CF)
Cystic fibrosis is a genetic condition that affects the production and flow of mucus within the lungs and digestive system, parts of the body that then become clogged with a thick, sticky mucus.
Symptoms start early on in life, often before a child reaches the age of 1 year old. The symptoms that usually manifest include:
- Long-term, persistent cough
- Recurrent infections of the chest and lung
- Poor weight gain
- The infant’s sweat may be unusually salty
Cystic fibrosis is caused by a mutation in the gene that codes for a protein called the cystic fibrosis transmembrane conductance regulator (CFTR). This protein is responsible for regulating the transport of sodium and chloride ions in and out of cells. The mutation results in the production of an abnormal CFTR protein that allows too much salt and not enough water into the cells. This causes a build up of thick, sticky mucus in the tubes and passageways of the lungs and respiratory system which leads to symptoms of the condition.
One in every 2,500 babies born in the UK are born with this condition and at present over 9000 individuals in the UK are living with cystic fibrosis. In the United States, around 30,000 people are living with this disease. Cystic fibrosis is more common among white individuals of northern European descent and Caucasians are at a greater risk than African Americans and Asian Americans. Latinos and Native Americans, especially the Pueblo and Zuni are also at risk of developing cystic fibrosis.
All newborn babies are screened for cystic fibrosis. A small amount of the baby’s blood is drawn from their heel and transferred to a special card which is sent to a laboratory for analysis
There is no cure for cystic fibrosis and treatment is aimed at relieving symptoms and making the condition easier to live with. Treatment can also prevent or minimize the long-term damage that can be caused by infections and other complications. For example, bronchodilators are used to help expand the airways of the lungs and ease breathing, while antibiotics are used to combat infection. One of the important parts of treatment is performing exercises that can help clear mucus from the airways and lungs.
In previous years, children often died from cystic fibrosis before they reached adulthood. However, advances in treatment have meant that over half of sufferers now live into their 40s.
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Last Updated: Feb 26, 2019
Dr. Ananya Mandal
Dr. Ananya Mandal is a doctor by profession, lecturer by vocation and a medical writer by passion. She specialized in Clinical Pharmacology after her bachelor's (MBBS). For her, health communication is not just writing complicated reviews for professionals but making medical knowledge understandable and available to the general public as well.
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