An inherited disorder characterized primarily by progressive lung disease, pancreatic insufficiency, gastrointestinal obstruction, and an excess of sodium and chloride in the sweat. Incidence most commonly is a fatal autosomal recessive disease affecting caucasian populations (carrier rate is 1/20), and varies between different populations: Northern Ireland - 1 in 1700 – 1900; USA: Caucasians - 1 in 1900 – 3700; England: Asian - 1 in 10,000; USA: Black - 1 in 17,000. Age of onset is greater in infancy than adolescence with risk factors:
gene: cystic fibrosis transmembrane conductance regulator (CFTR) gene
The function of the CFTR gene is unknown and controversial. There is a defective transport of anions (Cl) across epithelial cells in the airways, pancreas, intestine, and sweat glands leads to chronic lung disease, pancreatic insufficiency, gastrointestinal obstruction, and increased sodium and chloride in the sweat. Over 400 mutations of the CFTR gene have been identified with 70% of the mutations in the CFTR being deltaF508. Those homozygous for this mutation tend to have pancreatic insufficiency.
Clinically, a diffuse manifestation of disease processes can occur:
Sweat Gland Manifestations
i. Failure to reabsorb Cl
ii. Increased Na, Cl, K in sweat (i.e., loose NaCl through sweat)
iii. Salty taste with salt crystals on skin
iv. Salt depletion, which can lead to profound hypochloremia, hyponatremia, alkalosis, and/or hypotension
2006-09-28 22:53:41
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answer #1
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answered by prakash s 3
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The sweat glands excrete large amounts of salt. See the attached link.
2006-09-28 19:28:26
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answer #2
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answered by kbit03 2
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