Why does cystic fibrosis occur

The sample can confirm the presence of a lung infection. It can also show the types of germs that are present and determine which antibiotics work best to treat them. A chest X-ray is useful in revealing swelling in the lungs due to blockages in the respiratory passageways. A CT scan creates detailed images of the body by using a combination of X-rays taken from many different directions. These images allows your doctor to view internal structures, such as the liver and pancreas, making it easier to assess the extent of organ damage caused by cystic fibrosis.

Pulmonary function tests PFTs determine whether your lungs are working properly. The tests can help measure how much air can be inhaled or exhaled and how well the lungs transport oxygen to the rest of the body. Any abnormalities in these functions may indicate cystic fibrosis.

Most transplant recipients report improved strength and energy, and freedom from symptoms such as coughing and shortness of breath. Chest therapy helps loosen the thick mucus in the lungs, making it easier to cough it up. A common technique involves placing the head over the edge of a bed and clapping with cupped hands along the sides of the chest. Cystic fibrosis can prevent the intestines from absorbing necessary nutrients from food.

You may also need to take pancreatic enzyme capsules with every meal. Your doctor may also recommend antacids , multivitamins , and a diet high in fiber and salt. The outlook for people with cystic fibrosis has improved dramatically in recent years, largely due to advances in treatment. Today, many people with the disease live into their 40s and 50s, and even longer in some cases. The resulting damage to the lungs can cause severe breathing problems and other complications.

However, genetic testing should be performed for couples who have cystic fibrosis or who have relatives with the disease. When you have cystic fibrosis, you can get pregnant and carry a baby to term. Read on to learn how the condition can affect your pregnancy, testing….

Genetics Home Reference. Mayo Clinic; Rafeeq MM, et al. Cystic fibrosis: Current therapeutic targets and future approaches. Journal of Translational Medicine. Merck Manual Professional Version. American College of Obstetricians and Gynecologists. Simon RH. Cystic fibrosis: Overview of treatment of lung disease. Solomon M, et al. Nutritional issues in cystic fibrosis. Clinics in Chest Medicine. Savant AP, et al.

Cystic fibrosis year in review , part 1. Pediatric Pulmonology. Cystic fibrosis year in review , part 2. Brown A. Allscripts EPSi. Mayo Clinic. June 14, Drug trials snapshots: Trikafta. Food and Drug Administration.

Accessed Dec. Trikafta prescribing information. Accessed Nov. Inflammation occurs with an infection. Intestinal blockage Something that blocks the flow of food or feces in the intestines. Malabsorption Poor uptake of nutrients from food for use by the body.

In CF, mucus can plugs the ducts that carry the enzymes and hormones used in digestion. The body can't digest food as well so doesn't get the nutrients from the food. The body needs nutrients for health and growth. A common symptom of CF is failure to thrive. Median The middle point in a line of values. Above and below the median are an equal number of values. In "1 4 5 9 12", "5" is the median.

Two numbers are above the 5, and two numbers are below it. Mucus A thin, slippery fluid made by mucus membranes and glands. In CF, mucus is often thick and sticky. Nutrition supplements Pills, fluids, snacks, and drinks that give the body extra nutrition. Pancreas Long gland-like organ found behind the stomach. The duct part of the pancreas secretes enzymes into the intestine to help break down food. In CF, mucus may clog the ducts and block digestion.

The other part of the pancreas contains endocrine tissue, which makes the hormone insulin. Insulin controls how the body uses and stores sugar.

The Cystic Fibrosis Center at Stanford. The Basics of CF. What Is CF? How is CF diagnosed? A suspicion of CF occurs when some of these symptoms are present: Persistent cough, wheezing, or recurrent pneumonia Good appetite, but poor weight gain Loose, bad-smelling bowel movements A salty taste to the skin Clubbing enlarging of the fingertips A simple, painless test called a sweat chloride test can then be done. Genetics and CF What is a gene? CF and the Lungs What happens in the lungs: The lungs are like an upside down tree: the trachea is the trunk, the bronchi are the main branches, the bronchioles are smaller branches, and the alveoli are the smallest little twigs and leaves.

Flutter: A pocket device that provides positive expiratory pressure PEP therapy. It looks like a fat pipe. Inside the pipe is a plastic cone cradling a steel ball sealed with a perforated cover.

Exhaling through your mouth into the flutter with a moderate force causes the ball to oscillate move back and forth in the pipe. Oscillation is transmitted throughout the airways, loosening secretions. The force of exhalation helps to mobilize secretions. It works in two ways: the chest wall is vibrated to break up sputum, then chest wall oscillation causes outward airflow, like a miniature cough. Autogenic drainage uses the patient's own airflow to mobilize secretions, through controlled, graduated inspiratory and expiratory maneuvers.

This technique, though sometimes difficult to learn and do correctly, does not require any assistive devices. This method requires training with a respiratory therapist to perform properly.

ACB is combined with a forced expiratory technique which uses "huffing" from various lung volumes to assist in removal of secretions and thoracic expansion exercises. Intrapulmonary Percussive Ventilation IPV is an airway clearance technique that uses compressed gas to deliver a series of pressurized gas minibursts to the respiratory tract usually by a mouthpiece. The IPV device is a pressurized aerosol machine that delivers aerosolized medications through a mouthpiece under pressure and with oscillations that vibrate the chest and loosen airway secretions.

Lung Infections What Is an Infection? What happens in an infection? Invaded by these unfriendly organisms, the tissue becomes inflamed, the normal reaction of tissue to injury.

Inflammation is characterized by heat, swelling, redness, and pain. The invading microorganisms damage lung tissue. Damaged cells send out chemical messages to the body, called chemotactic substances.

These chemical messages initiate the body's immune response. The disease occurs in 1 in 2, to 3, white newborns. Cystic fibrosis is less common in other ethnic groups, affecting about 1 in 17, African Americans and 1 in 31, Asian Americans.

Mutations in the CFTR gene cause cystic fibrosis. The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. Chloride is a component of sodium chloride, a common salt found in sweat. Chloride also has important functions in cells; for example, the flow of chloride ions helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus.

Mutations in the CFTR gene disrupt the function of the chloride channels, preventing them from regulating the flow of chloride ions and water across cell membranes. As a result, cells that line the passageways of the lungs, pancreas, and other organs produce mucus that is unusually thick and sticky.

This mucus clogs the airways and various ducts, causing the characteristic signs and symptoms of cystic fibrosis. Other genetic and environmental factors likely influence the severity of the condition.

For example, mutations in genes other than CFTR might help explain why some people with cystic fibrosis are more severely affected than others.

Most of these genetic changes have not been identified, however. This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Genetics Home Reference has merged with MedlinePlus.