cystic fibrosis

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Related to Cystic fibrosis allele: Recessive allele

cystic fibrosis

(sĭs`tĭk fībrō`sĭs), inherited disorder of the exocrine glands (see glandgland,
organ that manufactures chemical substances. A gland may vary from a single cell to a complex system of tubes that unite and open onto a surface through a duct. The endocrine glands, e.g.
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), affecting children and young people; median survival is 25 years in females and 30 years in males. It is caused by a genetic abnormality in the CF transmembrane conductance regulator (CFTR) gene that results in a misshapen CFTR protein and the consequent disruption of chloride transfer across cell membranes. As a result, chloride ions build up in the cells of the lungs and other organs. Water stays inside the cells to dilute the chloride rather than being drawn out of the cells by normal chloride movement and the normal secretions of the organs thicken. Mucus in the exocrine glands becomes thick and sticky and eventually blocks the ducts of these glands (especially in the pancreas, lungs, and liver), forming cysts. The disease also causes the sweat glands to secrete excessive salt, causing heat prostration in hot weather. Symptoms, which vary according to the severity of the condition and the glands involved, include a distended abdomen; diarrhea; bulky, foul-smelling stools; and malnutrition. Medical problems include nasal polyps and sinus disease, repeated respiratory infections, infertility, liver disease, and diabetes. Diagnosis is confirmed by a sweat test or measurement of transmembrane potential.

Treatment consists of dietary adjustment (low fat–high calorie) and the administration of vitaminsvitamin,
group of organic substances that are required in the diet of humans and animals for normal growth, maintenance of life, and normal reproduction. Vitamins act as catalysts; very often either the vitamins themselves are coenzymes, or they form integral parts of coenzymes.
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, pancreatin, and antibioticsantibiotic,
any of a variety of substances, usually obtained from microorganisms, that inhibit the growth of or destroy certain other microorganisms. Types of Antibiotics
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 to ward off secondary infections. Special measures are necessary to decrease the viscosity of pulmonary secretions; aerosol application of recombinant human DNase, an enzymeenzyme,
biological catalyst. The term enzyme comes from zymosis, the Greek word for fermentation, a process accomplished by yeast cells and long known to the brewing industry, which occupied the attention of many 19th-century chemists.
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 that digests the sticky extracellular DNA that helps form these viscous secretions, was approved in 1993. In some cases lung transplantation (see transplantation, medicaltransplantation, medical,
surgical procedure by which a tissue or organ is removed and replaced by a corresponding part, usually from another part of the body or from another individual.
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) is helpful. The identification of the abnormal gene (1989) paved the way for gene therapy aimed at altering the genetic structure by transferring to the patient cells with normal CFTR genes.

Identification of the genes has also made genetic testinggenetic testing,
medical screening for genetic disorders, by examining either a person's DNA directly or a person's biochemistry or chromosomes for indirect evidence. Testing may be done to identify a genetic disorder a person has, whether the disorder is already evident or not,
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 and diagnosis possible. Evolutionary biologists have suggested that the gene, which must be inherited from both parents to cause the disorder, affords carriers some protection against choleracholera
or Asiatic cholera,
acute infectious disease caused by strains of the bacterium Vibrio cholerae that have been infected by bacteriophages. The bacteria, which are found in fecal-contaminated food and water and in raw or undercooked seafood, produce a
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, a disease that kills through profound loss of fluids.

Bibliography

See P. Davis, Cystic Fibrosis (1993); M. E. Hodson and D. M. Geddes, Cystic Fibrosis (1994).

cystic fibrosis

[¦sis·tik fī′brō·səs]
(medicine)
A hereditary disease of the pancreas transmitted as an autosomal recessive; involves obstructive lesions, atrophy, and fibrosis of the pancreas and lungs, and the production of mucus of high viscosity. Also known as mucoviscidosis.

cystic fibrosis

an inheritable disease of the exocrine glands, controlled by a recessive gene: affected children inherit defective alleles from both parents. It is characterized by chronic infection of the respiratory tract and by pancreatic insufficiency
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