Cystic Fibrosis is caused by CFTR mutation. Symptoms include accumulation of sticky mucus in the lungs and excessively salty sweat. Cystic Fibrosis has no cure but can be managed.
Cystic fibrosis (CF) is an
inherited or genetic disease involving the secretary glands, such as the mucus and sweat glands.
People with the disease inherit
mutant CFTR genes, one from each parent who may not have the disease themselves.
Mucus is a slithery, watery substance, secreted by the tissue that lines certain organs, keeping them moist and preventing infections. In CF patients,
thick, sticky mucus accumulates in the lungs and blocks airways. This mucus also creates an ideal ambience for excessive bacterial growth, which leads to frequent infections that eventually damage the lung.
In people with CF the
decline of lung function sets in during childhood. Over time the lungs are irreversibly damaged and breathing becomes severely laborious.
The severity of Cystic Fibrosis symptoms varies with patients. In some the disease is so aggressive that it manifests right from childbirth. In those with the less severe form, the symptoms manifests only during teenage years.
CF mostly affects the
sinuses, pancreas, lungs, liver, intestines and the sex organs. It does not affect the brain.
Another feature is the
salty sweat of the CF patients. There is excessive salt loss which results in mineral imbalance which in turn leads to a number of health problems including dehydration.
There are many tests that can be carried out to detect and confirm CF. The
sweat test using sweat samples and
genetic studies using blood samples, to detect the mutant CFTR gene in the affected and carrier individuals, are reliable methods of diagnosing CF.
Being a genetic condition, cystic fibrosis
cannot be cured but can be treated. There has been a great improvement in the choice of treatments available to control the symptoms of CF. Earlier, the patients died while still in their teens but in these modern times, their survival has extended to 40 years and more.
CF is one of the
most common genetic conditions among the
Caucasians. Currently there are about 30,000 people living with the disease and each year there are about a thousand new cases being freshly diagnosed. Approximately, more than 10 million Americans carry the mutant CFTR gene and many of them are unaware of their ‘carrier’ status.
CF is most prevalent among the Caucasians of Northern European descent although it is found to affect men and women of all ethnic and racial backgrounds. It is also quite prevalent among the Native Americans -- the Zuni and the Pueblo—and also the Latinos. It is less common among the African and Asian Americans.
In the United Kingdom the incidence is approximately 1 in 2500 children born. It is less common in African Americans (1 in 15000) and in Asian Americans (1:31000). Cystic fibrosis is rare in India. The precise incidence of CF among Indians is unknown. The incidence in migrant Indian populations in the USA has been estimated to be 1 in 40000, and in the UK between 1 in 10000 to 12000. As a result of the widespread belief that CF is rare in Indians, the disease is rarely suspected and even if it is suspected the diagnosis is rarely confirmed due to the poor availability of facilities for diagnosis. Recent reports suggest that genetic and clinical profile of Indian children with CF may be different and suggest that the diagnosis of CF is delayed in these children which may result in severe malnutrition by the time the condition is eventually diagnosed. Incidently, malnutrition is a bad prognostic indicator for survival.
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