by K Vaze

Created on: May 08, 2008   Last Updated: May 12, 2008

What is cystic fibrosis?
This is a debilitating,genetic condition,caused by a mutation in gene known as Cystic Fibrosis Transmembrane Coductance Regualtor Or CFTR.In this the mucus that our body produces is very thick and sticky unlike the normal watery mucus.It builds up in the airways and obstruct the lungs resulting in infections.The thick mucus also blocks the pancreatic ducts ,stopping essential enzymes from reaching the digestive tract,which ultimately results in poor digestion.It also lines the inner layers of intestines making it difficult to absorb the nutrients.In this disease the sweat that body makes becomes too salty making it easier for the person to lose large amounts of sodium.

One of the leading nonprofit organization working on cystic fibrosis research, to find cure for CF and improve the quality of life for the CF patients is" Cystic fibrosis Foundation" established in 1955.A research conducted by the foundation's scientists in 1989 discovered the defective gene responsible for CF.

Causes of Cystic fibrosis
This is not a contagious disease but a condition that is passed on through the genes.These genes come in pairs,a child receives one from each parent,If both of them are carriers of CF gene there is 25% chance that the child will have CF or a 50% chance that he will be a carrier of the abnormal gene.This abnormal genetic mutation basically affects the protein production and transportation of sodium and chloride at cellular level resulting in the thick mucus and high sodium levels.

Diagnosis Of Cystic Fibrosis
It is made with the help of following tests,
-Cystic fibrosis genetic test to look for the presence of this faulty gene.
A cystic fibrosis screening test is done to identify if a person is carrier of that gene to determine the risks of having a baby with CF.Genetic test is offered to all the newborns to check if they carry the same gene if there is family history.
-Sweat test to measure the amount of sodium and chloride in the sweat .If two tests show elevated levels, it is suspected that the child or a person has CF
-Trypsinogen or ImmunoReactive trypsin Test to determine pancreatic insufficiency.It is commonly done in babies where it is difficult to do the sweat test.

Symptoms of Cystic Fibrosis
Cystic fibrosis symptoms can vary in severity and depend upon the organs affected.Some of the common ones are,
-Persistent coughs with lots of mucus and wheezing,sometimes blood in coughed up mucus.
- shortness of breath
-Sinus blockage, sinus infection,facial

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