an inherited disease that causes chronic respiratory and digestive problems
Cystic fibrosis is a fatal genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection and blocks the pancreas. The blockage stops digestive enzymes from reaching the intestine where they are required in order to digest food.
an inherited secretory disorder of the pancreas and lungs. One of the most-common recessive inherited disorders among Caucasians.
The Condition"...and toes), pneumothorax (rupture of lung tissue and trapping of air between the lung and the chest wall), hemoptysis (coughing of blood), cor pulmonale (enlargement of the right side of the heart), abdominal pain and discomfort, gassiness (too much gas in the intestine), and rectal prolapse (protrusion of the rectum through the anus)..."
a hereditary disease that affects the lungs
An inherited genetic disease resulting from mutations in the CFTR gene. Patients with CF experience an accumulation of thick mucus in the lungs and sinuses. Bacteria readily colonize this mucus and the thickness of the mucus prevents clearance of bacteria and reduces the efficacy of antibiotics. Repeated infections produce scarring in the lung, which ultimately results in loss of respiratory function. It is estimated that 55,000 people worldwide have CF. The median life expectancy of patients with CF is 31 years.
The most common of severe genetic disorders in the Caucasian population. Approximately 4% of the population is a recessive carrier of the CF gene (recessive means that both the male and the female must be a carrier to yield a one in four risk of a CF child). As a whole this results in one birth of a cystic fibrosis child in 2,500 births. Many sperm banks screen for CF. Consult your physician for further information.
An inherited disorder of infants, children and young adults, in which certain glands do not work properly. Abnormal mucus production causes mucus build-up in the lungs, which interferes with breathing. Mucus build up can also impair the pancreas and the intestine. The effect on organs and glands can vary greatly, so outcome may be different between patients. With diligent medical care, patients with CF are surviving beyond middle age. Treatment of CF includes physical therapy to loosen the mucus in the lungs, pancreatic enzymes, and antibiotics to fight infections of the lungs.
Inherited disease in which mucus-producing glands throughout the body, especially in the pancreas and lung, fail to produce normal enzymes and mucus.
A recessive disorder caused by mutations in the CFTR gene. Major symptom is thick mucous in the lungs, leading to infections.
A serious genetic disease (with a recessive inheritance pattern) characterised by a major disturbance of the body's mucus secretions, and thus a cause of incapacitating disease of the lungs. Important in our context because the heterozygous (or carrier) state in men can manifest with azoospermia due to congenital absence of the vasa deferentia -- the infertility of which is nowadays able to be overcome with testicular sperm extraction and ICSI, thus risking inadvertent transmission.
Inherited disorder of the exocrine glands that results in the secretion of abnormal amounts of mucus.
An autosomal recessive genetic condition of the exocrine glands, which causes the body to produce excessively thick, sticky mucus that clogs the lungs and pancreas, interfering with breathing and digestion.
A hereditary disease resulting from mutation to a single gene. The condition causes the body to produce a thick sticky mucus that clogs the lungs, and which blocks the pancreas, thereby preventing digestive enzymes from reaching the intestines.
A genetic disorder affecting the respiratory and digestive systems, most commonly found among whites of Northern European descent
(SIS-tik fie-BRO-sis) ( listen) Common hereditary disease that usually appears in early childhood that involves functional disorder of the exocrine glands (glands that release secretions via a canal or duct). It is marked by faulty digestion due to a deficiency of pancreatic enzymes; by difficulty in breathing due to mucus accumulation in airways; and by excessive loss of salt in sweat.
a lung disease that causes the production of thick mucus in the lungs, hampering breathing.
an inherited genetic disease, involving the disordered function of the exocrine glands, marked by especially difficult breathing due to mucus accumulation in the airways
Disease where mucus production in the lungs is abnormal, both in quantity and consistency. Patients newly presenting asthma symptoms are usually tested for CF using a sweat test. This is standard procedure in order to rule out CF as a cause of the patient's symptoms. Cough-variant asthma and CF present very similar symptoms. For more on CF, visit the Cystic Fibrosis Foundation.
an inherited disorder of the exocrine glands, primarily the pancreas, pulmonary system and sweat glands, characterized by abnormally thick luminal secretions
(Abbreviation CF) A hereditary disease that usually develops during early childhood and mainly affects the pancreas, respiratory system, and sweat glands. It usually results in chronic respiratory infections and impaired pancreatic function.
the most common congenital disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single gene; there is no cure
A inherited disease caused by mutations of the CFTR gene that affects the excretory glands, lungs, pancreas and other organs. In the lungs, cystic fibrosis associated with the presence of thick mucus, bacterial colonization of the airways and repeated bouts of acute exacerbations of the lung disease.
An inherited disorder in which the lungs are prone to infection, and fats and other nutrients cannot be absorbed into the body.
A genetic disorder where mucus builds up in the lungs, causing infections in the chest. Also affects the digestive system and can lead to malnutrition.
An inherited disease that results in abnormal mucus secretion that produces severe respiratory problems, incomplete digestion and increased salt secretion in sweat.
The most common recessive disease in the Caucasian population, affecting 1 in 2500 persons. Individuals with CF usually have severe lung disease and other problems leading to chronic illness and shortened lifespan. CF carriers ordinarily do not exhibit symptoms of the disease. DNA testing of donor applicants reduces the chance that a donor is a carrier of CF from 1 in 25 to 1 in 160, accomplishing almost a 7 fold reduction in CF risk for offspring from tested semen donors..
Recommendation Vitamin E"Cystic fibrosis is associated with defective absorption of vitamin E because of a lack of lipase and poor formation of chylomicrons (small fat clusters)..."
A genetic disease causing problems such as chronic lung problems, diarrhea, poor weight gain, and infertility.
An inherited disease that causes the glands to produce thick mucus
this is a condition which affects certain organs in the body, especially the lungs and pancreas, by clogging them with thick sticky mucus. New treatments mean people with cystic fibrosis can live relatively healthy lives. Their standard of life may be improved if the condition is detected and treated in the first months of life. Cystic fibrosis is more common in some populations within the UK than others. Some areas have been screening for CF in the UK since the 1980s. Within the next few years all newborn babies will be screened for cystic fibrosis.
An inherited disease in which a thick mucus clogs the glands of the pancreas, lungs, and intestines. The sweat of the affected individual typically has high salt concentrations.
A common hereditary disease in which exocrine (secretory) glands produce abnormally thick mucus. This mucus can cause problems in digestion, breathing, and body cooling.
A hereditary disease in which the primary symptoms are breathing difficulties and respiratory infections due to an accumulation of mucus in the lungs. The symptoms of this disease usually develop in infancy.
A disorder of the mucus-secreting glands of the lungs, the pancreas, the mouth, and the gastro-intestinal tract. The commonest serious genetic disease in Caucasian children.
A genetic disease characterized by extremely thick bodily secretions in the digestive and pulmonary systems. Sticky, tenacious secretions in the lungs lead to frequent, debilitating infections, subsequent irreversible lung damage, and eventual early death due to respiratory failure. Conscientious bronchial hygiene is essential in the treatment of CF.
A potentially lethal human disease of secretory glands; the most prominent symptom is excess secretion of lung mucus; inherited as an autosomal recessive.
A hereditary childhood disease caused by defective enzyme production in the pancreas. Results in excess mucous in the lungs, causing severe respiratory problems.
A genetic disease that causes thick mucus to form and makes breathing difficult.
a hereditary disease of the exocrine glands, usually developing during early childhood and affecting mainly the pancreas, respiratory system, and sweat glands; characterized by the production of abnormally viscous mucus by the affected glands, usually resulting in chronic respiratory infections and impaired pancreatic function
A hereditary disease of the exocrine glands and is characterised by the production of abnormal secretions
An autosomal recessive genetic disorder that causes the production of mucus that clogs the airways of the lungs and the ducts of the pancreas and other secretory glands.
A genetic disorder that results in abnormal mucous secretions, including excess mucous in the lungs. Persons with cystic fibrosis are predisposed to recurrent pulmonary infections.
one of the most common serious genetic (inherited) diseases. One out of every 400 couples is at risk for having children with CF. CF causes the body to make abnormal secretions leading to mucous build-up. CF mucous build-up can impair organs such as the pancreas, the intestine and the lungs.
disease that causes both breathing and digesting problems. Cystic fibrosis runs in the family.
Cystic fibrosis (CF) is an inherited, life-limiting disease that affects the body's exocrine glands, causing them to secrete fluids that are poorly hydrated and therefore thicker and stickier than fluids in people without CF. This leads to chronic problems in various systems of the body, particularly the lungs.
an inherited disease in which a thick mucus clogs the lungs and blocks the ducts of the pancreas.
Unusually large amounts of copper have been found in the fingernails of infants with cystic fibrosis.
A serious genetic disease of excretory glands affecting the lungs and other organs. It causes production of very thick mucus that interferes with normal digestion and breathing.
A recessive genetic disorder affecting the mucus lining of the lungs, leading to breathing problems and other difficulties.
a genetically inherited disease that affects the lungs and gut.
A relatively rare genetic disorder that affects the respiratory and digestive systems. Treatment is most effective when the disease is recognized early.
a life-threatening disorder that causes severe lung damage and nutritional deficiencies. CF is an inherited (genetic) condition affecting the cells that produce mucus, sweat, saliva and digestive juices. Normally, these secretions are thin and slippery, but in CF, a defective gene causes the secretions to become thick and sticky. Instead of acting as a lubricant, the secretions plug up tubes, ducts and passageways, especially in the pancreas and lungs. Respiratory failure is the most dangerous consequence of CF. Each year approximately 3,200 white babies are born in the United States with CF. The disease is much less common among black and Asian-American children. Most babies born with CF are diagnosed by age 3, although mild forms of the disease may not be detected until the third, fourth or fifth decade of life. In all, about 30,000 American adults and children are living with the disorder. Although there's still no cure, the emerging field of gene therapy may someday help correct lung problems in people with CF.
A genetic disease involving a sticky buildup of mucus in the lungs (which makes breathing difficult and leads to infections), as well as pancreatic insufficiency (which leads to digestive problems). It is a recessive disease, occurring only when a child inherits two mutated copies of the CF gene--one from each parent.
Autosomal recessive. Mucous in lungs... Death in the 20s.
A common genetic disease. If both partners carry the gene, there is a 25% chance that the child will have the disease. This is unpleasant and currently there is no cure. It affects the lungs, bowels, pancreas, sweat glands etc.
a disease of the mucus and sweat glands which causes disorders of the lungs and pancreas. Desaturation - decrease in oxygen saturation of hemoglobin. Diaphragm - a dome shaped muscle above the abdomen and below the lungs. When it contracts negative pressure within the chest allowing air to be drawn into the lungs. Diffusion - movement of oxygen or carbon dioxide across the membrane of the alveoli. Dyspnea - difficult or labored breathing; air hunger.
CF is a hereditary condition affecting the body's ability to digest food properly. It also creates a mucous build-up in the lungs which may cause further medical problems.
a hereditary condition in which the body produces an excess of thick mucus affecting the respiratory system and pancreas. Cystic fibrosis is the most common recessive genetic condition in Caucasian populations.
One of the most common grave genetic (inherited) diseases, CF affects the exocrine glands and is characterized by the production of abnormal secretions, leading to mucous build-up. See the entire definition of Cystic fibrosis
An inherited disorder that affects the respiratory and digestive systems.
a genetic (inherited) disease characterized by the production of abnormal secretions, leading to the accumulation of mucus in the lungs, pancreas, and intestine. This build-up of mucus causes difficulty breathing and recurrent lung infections, as well as problems with nutrient absorption due to problems in the pancreas and intestines. Without treatment, CF results in death for 95 percent of affected children before age five; however, the longest-lived CF patient survived into his late 30s.
a common genetic disorder that involves a mutation in a protein called the cystic fibrosis transmembrane conductance regulator, or CFTR for short. It affects the entire body, causing disability and early death. Difficult breathing is the most common symptom and is caused by lung infections that can be treated, but not cured by antibiotics. There are other symptoms, including sinus infections, poor growth, diarrhea, and infertility.
congenital disease characterized by excessive secretions of certain glands, resulting in pancreatic insufficiency and pulmonary disorders.
an inherited autosomal recessive condition that causes the secretion of abnormal mucus in the lungs and problems with pancreas function and food absorption.
A genetic disease caused by a defective protein known as the cystic fibrosis transmembrane protein (CFTR). Normal CFTR is responsible for the transport of salts and water from inside of cells to extracellular compartments. Mutations in the CFTR gene can result in misfolded CFTR protein that prevents the transport of salts and water. In the lung epithelium, this results in abnormally thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections.
A genetic condition characterized by thickened secretions in the lungs, bronchiectesis (see above) and repeated pulmonary infections. Some patients have digestive problems, resulting in difficulty absorbing food.
An inherited disorder of the exocrine glands. There is no known cure yet.
(CF) An autosomal recessive genetic disease involving a sticky build-up of mucus in the lungs (which makes breathing difficult and leads to infections), as well as pancreatic insufficiency (which leads to digestive problems).
an inherited disease that occurs in early childhood. Glands that produce important fluids do not function properly leading to difficulty breathing, altered digestion, and excessive loss of salt in the sweat.
The Condition"...These include sinusitis (inflammation of the nasal sinuses, which are cavities in the skull behind, above, and on both sides of the nose), nasal polyps (fleshy growths inside the nose), clubbing (rounding and enlargement of fingers and toes), pneumothorax (rupture of lung tissue and trapping of air between the lung and the chest wall),..."
The Condition"...It measures the amount of salt ( sodium chloride) in the sweat..."
Disease of mucous glands throughout the body that usually develops during childhood, and makes breathing increasingly difficult. If a child receives two copies of the defective gene called the CF gene - one copy from each parent - then the child will develop the disease.
A disease that most commonly affects the lungs and digestive system, especially the pancreas. It causes the exocrine glands, which produce mucus and sweat, to produce abnormal secretions. CF causes the cells in the lung tissue to produce an abnormal amount of thick, sticky mucus that clogs the airways of the lungs, resulting in pulmonary obstructions and life-threatening bacterial infections.
A congenital metabolic disorder characterized by excessively viscous mucus causing obstruction of passageways.
A progressive, often fatal hereditary disease in which the body's glands produce abnormally thickened mucus in the pancreas, lungs, liver, and intestines. Prenatal screening can determine if a fetus has cystic fibrosis.
Genetic disease, in which changes of the function of various internal enzymes lead to bronchial and digestive problems.
An inherited disease caused by an abnormal gene passed from both parents to the child. In cystic fibrosis, the child’s exocrine glands produce large amounts of thick mucous that clogs the lungs. Progressive lung damage and impaired absorption of fat and protein characterize cystic fibrosis.
This is a hereditary disease whose symptoms usually appear shortly after birth. They include faulty digestion, breathing difficulties and respiratory infections due to mucus accumulation, and excessive loss of salt in sweat. In the past, cystic fibrosis was almost always fatal in childhood, but treatment is now so improved that patients commonly live in to their twenties and beyond. [Talking Glossary
An obstructive lung disorder that is genetically based resulting in dysfunction of the exocrine glands. Leads to chronic lung infections and pancreatic dysfunction
Cystic fibrosis (CF) is a common hereditary disease that affects the entire body, causing progressive disability and brain damage. Difficulty breathing is the most common symptom and results from frequent lung infections, which are treated, though not always cured, by antibiotics and other medications. A multitude of other symptoms, including sinus infections, poor growth, diarrhea, and potential infertility result from the effects of CF on other parts of the body.