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Cystic Fibrosis

Cystic Fibrosis

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Published by: annex101 on Feb 22, 2010
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10/31/2012

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Cystic fibrosis
(also known as
CF
or 
mucoviscidosis
) is a common hereditary disease which affects the
entire body, causing progressive disability and often, early death. The name
cystic
 
 fibrosis
refers to the
characteristic scarring (
fibrosis
) and cyst formation within the pancreas, first recognized in the 1930s.
Difficulty breathing is the most serious symptom and results from frequent lung infections that aretreated, though not cured, by antibiotics and other medications. A multitude of other symptoms, includingsinus infections, poor growth, diarrhea, and infertility result from the effects of CF on other parts of the body.CF is caused by a mutation in a gene called the
cystic
 
fibrosis
transmembrane conductance regulator (CFTR). This gene helps create sweat, digestive juices, and mucus. Although most people without CFhave two working copies of the CFTR gene, only one is needed to prevent
cystic
 
fibrosis
. CF developswhen neither gene works normally. Therefore, CF is considered an autosomal recessive disease.CF is most common among Caucasians and Ashkenazi Jews; one in 25 people of European descent carryone gene for CF. Approximately 30,000 Americans have CF, making it one of the most common life-shortening inherited diseases. Individuals with
cystic
 
fibrosis
can be diagnosed prior to birth by genetictesting or in early childhood by a sweat test. There is no cure for CF, and most individuals with
cysticfibrosis
die young many in their 20s and 30s from lung failure. Ultimately, lung transplantation is oftennecessary as CF worsens
Cystic fibrosis is an inherited disease that causes thick, sticky mucus to build up inthe lungs and digestive tract. It is one of the most common chronic lung diseases inchildren and young adults, and may result in early deathA breathing treatment for cystic fibrosis, using a mask nebuliser and the ThAIRapyVest
Causes, Incidence, And Risk Factors
Cystic fibrosis (CF) is caused by a defective gene which causes the body to produce abnormally thick andsticky fluid, called mucus. This mucus builds up in the breathing passages of the lungs and in the pancreas, the organ that helps to break down and absorb food.This collection of sticky mucus results in life-threatening lung infections and serious digestion problems.The disease may also affect the sweat glands and a man's reproductive system.Millions of Americans carry the defective CF gene, but do not have any symptoms. That's because a person with CF must inherit two defective CF genes -- one from each parent. An estimated 1 in 29Caucasian Americans have the CF gene. The disease is the most common, deadly, inherited disorder affecting Caucasians in the United States. It's more common among those of Northern or CentralEuropean descent.Most children with CF are diagnosed by age 2. A small number, however, are not diagnosed until age 18or older. These patients usually have a milder form of the disease.
Symptoms
Because there are more than 1,000 mutations of the CF gene, symptoms differ from person to person.Symptoms in newborns may include:
Failure to gain weight normally during childhood
 No bowel movements in first 24 to 48 hours of life
Salty-tasting skinSymptoms related to bowel function may include:

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