Meaning of CYSTIC FIBROSIS
| Pronunciation: | | 'sistik fI'browsis
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 WordNet Dictionary |
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| | Definition: | |
[n] 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 |
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| | Synonyms: | | CF, fibrocystic disease of the pancreas, mucoviscidosis, pancreatic fibrosis |
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| | See Also: | | fibrosis, monogenic disease, monogenic disorder | |
| Medical Dictionary |
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| | Definition: | | A common hereditary disease in which exocrine (secretory) glands produce abnormally thick mucus. This mucus can cause problems in digestion, breathing, and body cooling. |
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| Biology Dictionary |
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- A recessive genetic disease in which the exocrine glands of afflicted individuals produce abnormally thick mucus which block the intestines and lung passageways and produce scarring and lesions in the lungs and pancreas. People with the disease have a very hard time breathing and often die from suffocation. CF patients used to die in childhood, but with the advent of modern treatments, patients now live an average of 21-25 years.
- About half of cystic fibrosis patients first appear for medical care as failure-to-thrive infants with recurrent respiratory problems such as infections, and small airway obstructions. 15% appear for medical care because of intestinal obstruction due to the presence of thick meconium in the large bowel. More than 95% of males affected with cystic fibrosis are infertile.
The problem is in the excretion of an abnormal mucus that obstructs exocrine glands (glands that excrete outside of the body as versus endocrine glands that excrete into the circulation). The protein that is defective is the cystic fibrosis transmembrane conductance regulator (CFTR) which is involved in chloride channel activity. The disease is autosomal recessive inherited condition affecting 1 in 2000 Caucasian births; the disease is caused by an abnormal gene on chromosome 7. Cystic fibrosis is diagnosed by symptoms coupled with a sweat sodium and chloride test. Sweat sodium and chloride values: sodium:
normal: < 70 mEq/L
abnormal: > 90 mEq/L
borderline: 70 to 90 mEq/L
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