Cystic Fibrosis is…
Cystic fibrosis (CF), also called mucoviscidosis, is a hereditary disease that affects the entire body, causing progressive disability and early death. Formerly known as cystic fibrosis of the pancreas, this entity has increasingly been labeled simply ‘cystic fibrosis.’
Difficulty breathing and insufficient enzyme production in the pancreas are the most common symptoms. Thick mucous production as well as a low immune system results in frequent lung infections, which are treated, though not always cured, by oral and intravenous antibiotics and other medications. A multitude of other symptoms, including sinus infections, poor growth, diarrhea, and potential infertility (mostly in males) result from the effects of CF on other parts of the body.
1 in 2500 children are born with cystic fibrosis, and it is one of the most common fatal inherited diseases.
CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). The product of this gene helps create sweat, digestive juices, and mucus.
The name cystic fibrosis refers to the characteristic ‘fibrosis’ (tissue scarring) and cyst formation within the pancreas, first recognized in the 1930s.[
The most consistent aspect of therapy in cystic fibrosis is limiting and treating the lung damage caused by thick mucus and infection with the goal of maintaining quality of life. Intravenous, inhaled, and oral antibiotics are used to treat chronic and acute infections. Mechanical devices and inhalational medications are used to alter and clear the thickened mucus. Other aspects of CF therapy involve treatment of diabetes with insulin, pancreatic disease with enzyme replacement, and infertility with advanced reproductive techniques. In addition, therapies such as transplantation and gene therapy aim to cure some of the effects of cystic fibrosis.
Lung transplantation often becomes necessary for individuals with cystic fibrosis as lung function and exercise tolerance declines. Although single lung transplantation is possible in other diseases, individuals with CF must have both lungs replaced because the remaining lung would contain bacteria that could infect the transplanted lung. A pancreatic or liver transplant may be performed at the same time in order to alleviate liver disease and/or diabetes. Lung transplantation is considered when lung function approaches a point where it threatens survival or requires assistance from mechanical devices.
Gene therapy holds promise as a potential avenue to cure cystic fibrosis. Gene therapy attempts to place a normal copy of the CFTR gene into affected cells. Studies have shown that to prevent the lung manifestations of cystic fibrosis, only 5–10% the normal amount of CFTR gene expression is needed. Many approaches have been theorized and several clinical trials have been initiated but, as of 2006, many hurdles still exist before gene therapy can be successful.
Cystic fibrosis is diagnosed in males and females equally. For unclear reasons, males tend to have a longer life expectancy than females. Life expectancy for people with CF depends largely upon access to health care. In 1959, the median age of survival of children with cystic fibrosis was 6 months. In the United States, the life expectancy for infants born in 2006 with CF is 36.8 years, based upon data compiled by the Cystic Fibrosis Foundation. Similarly, in much of the western world people with CF live to a similar age. However, the life expectancy in underdeveloped countries is much less — the majority of individuals with CF do not live past the age of ten.
Ref: wikipedia.org
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Tags: Life