FREE ESSAY ON CYSTIC FIBROSIS

CYSTIC FIBROSIS

CysticFibrosis
WHAT IS CYSTIC FIBROSIS AND WHO DOES IT AFFECT:
Every year, 1,000 children with cystic fibrosis are born in the United States.
1 in 3,000 Caucasian babies have the disorder, making Cystic Fibrosis one 
of the most common lethal genetic diseases in Caucasians. Overall, there are 
30,000 Americans with Cystic Fibrosis, and an estimated 8 million people 
carry one copy of the defective gene that causes the disease. These carriers 
do not have symptoms of Cysitc Fibrosis, because a person must inherit t
two defective gene's, one from each parent-to develop the disease. However, 
each child of two Cystic Fibrosis carriers has a one in four chance of being 
born with Cystic Fibrosis. You can now have test to identify couples at risk 
for having children with Cystic Fibrosis.Improved therapy has transformed 
Cystic Fibrosis from a disease, to a chronic illness, with most patients living 
to adulthood. But despite this progress, there still is no cure for the disease 
and most patients eventually will have infections of the airways and lung 
failure. Since the 1989 identification of the gene which is altered in Cystic 
Fibrosis, the pace of basic research has increased rapidly, and scientists 
hope to translate new knowledge about the molecule basis of the disease to 
new therapies to improve the lives of patients with this genetic disease. The 
National Institute of Diabetes and Digestive and Kidney Diseases in 
partnership with other components of the National Institutes of Health and 
the Cystic Fibrosis Foundation, continues to foster research on the 
molecular processes contributing to CF, exploration of gene therapy to cure 
the disease, and efforts to develop other new and effective treatments. 
SYMOTOMS:
The greatest symptom of Cystic Fibrosis is the excessive production of 
thick, sticky mucus in the airways. Several factors may contribute to this 
mucus abnormality. In Cystic Fibrosis, the cells lining the airway do not 
transport salt and water normally, so mucus and other airway secretions may 
be depleted of water. There are also chemical changes in the mucus proteins. 
The mucus becomes so thick that it clogs the airways and provides an 
environment in which bacteria thrive. White blood cells are recruited into the 
lung to fight the infection. These white blood cells die and release their 
genetic material, into the mucus. This DNA aggravates the already excessive 
stickiness of the mucus, setting up a vicious cycle of further airway 
obstruction, inflammation and infection. To dislodge the mucus, Cystic 
Fibrosis patients cough frequently and require time-consuming daily chest 
and back clapping and body positioning to drain lung secretions. Because 
the mucus provides an ideal breeding ground for many organisms, Cystic 
Fibrosis patients have frequent airway infections. Among the most common 
germs causing infections in Cystic Fibrosis patients are Pseudomonas 
bacteria. This germ is difficult to clear in Cystic Fibrosis patients, even after 
treatment with antibiotics. Typically, Cystic Fibrosis patients have a pattern 
of low-grade, persistent infection with periodic worsening, sometimes 
requiring hospitalization. Recurring Pseudomonas infection and the 
inflammation that accompanies it gradually damage the lungs, causing 
respiratory failure, which is the leading cause of death among Cystic Fibrosis 
patients. As in the lung, thick secretions clog the pancreatic openings and 
damage the pancreas. In some Cystic Fibrosis patients, this damage occurs 
even before birth, while in others it develops as they grow older. The 
pancreas supplies digestive enzymes and bicarbonate to neutralize stomach 
acid so the enzymes can work properly in the intestine. Most Cystic Fibrosis 
patients have insufficient amounts of digestive enzymes for normal digestion. 
Pancreatic insufficiency causes foul-smelling, bulky bowel movements, 
malnutrition and slowed growth and development. Replacement of pancreatic 
enzymes can alleviate these symptoms. Attention to diet and supplements of 
fat-soluble vitamins are also required. As the disease progresses, the cells in 
the pancreas that make insulin may also be damaged and patients may 
develop diabetes. In addition to the pancreas, abnormalities are seen in other 
parts of the gastrointestinal tract. The bile ducts in the liver may be affected, 
causing biliary cirrhosis in a small percentage of patients. Newborns with 
Cystic Fibrosis may develop a condition called meconium ileus, in which the 
small intestine is obstructed by a plug of thick dark green fluid wich is called 
meconium, the material in the newborn gastrointestinal tract. Cystic Fibrosis 
also affects the reproductive organs, causing infertility in nearly all men and 
some women with the disease. Men with Cystic Fibrosis are generally infertile 
because the tubules, called the vas deferens, that meconiumtransport sperm 
from the testes are absent or undeveloped. Fertility may be reduced in 
women due to abnormal cervical mucus or to menstrual irregularity. 
Although pregnancy can be risky, many women with Cystic FIbrosis with 
relatively good pulmonary function have borne healthy children. However, 
the incidence of CF in their offspring is about one in 50. 
SIGNS AND TESTS OF CYSTIC FIBROSIS:
One of the tests they can preform is the Sweat electrolytes test. Its is a 
test that looks for how much chloride is in the sweatAnother test is the fecal 
fat test. It is a test that measures the amount of fat in the stool and the 
percentage of dietary fat that is un-absorbed. those are just some of the many 
tests that we have for Cystic Fibrosis.
GENE THERAPY
It is not yet possible but process is being made in finding out how to 
do gene therapy. Scientists in the laboratory have grown cells from 
the nose of a Cystic Fibrisis patient. The chloride defect has been 
correctedin small regions of the nasal cavity. They are giving the 
normal genes through nose drops.