Learn About Cystic Fibrosis Test
Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time.
Cystic Fibrosis MAY BE HEREDITARY
Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs. Other organs like pancreas, liver, kidneys, and intestine are also found to be affected in some cases
If both cops of the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein are having a pathogenic mutation, this disease is caused.
Till date, there is no cure for cystic fibrosis.
In Northern European ancestry, this affects one in every three thousand newborns.
The average life expectancy of cystic fibrosis in developed nations is about 42-50 years and at least 97% affected males experience infertility.
Cystic fibrosis (CF) is a complex, multisystem, genetic disease caused by abnormalities in the CF transmembrane conductance regulator (CFTR). People with CF have inherited two copies of the defective CF gene — one copy from each parent. Both parents must have at least one copy of the defective gene for the disease to be caused in the offspring.
In recent years, significant developments in genetic and biomedical research have enhanced our understanding of the disease. Now we have more detailed account of its cause, clinical management and approaches to diagnosis. Cystic fibrosis, for a long time remained a childhood disease who could rarely reach puberty. Although still without a cure, CF is not a terminal childhood disease anymore, but it remains a life-limiting condition with a median life expectancy of 41.1 years.
People who inherit one copy of the CFTR gene that contains a mutation and one normal copy are considered CF carriers. CF carriers do not get affected by the disease but can pass their copy of the defective gene on to their children.
If both of the biological parents CF carriers the chances for the children being affected are:
- 25 percent (1 in 4) the child will have CF
- 50 percent (1 in 2) the child will be a carrier but will not have CF
- 25 percent (1 in 4) the child will not be a carrier of the gene and will not have CF
According to the Cystic Fibrosis Foundation Patient Registry, in the United States:
- More than 30,000 people are living with cystic fibrosis (more than 70,000 worldwide).
- Approximately 1,000 new cases of CF are diagnosed each year.
- More than 75 percent of people with CF are diagnosed by age 2.
- More than half of the CF population is age 18 or older.
Symptoms of the disease
CFTR dysfunction in the affected organs cause several disorders. The affected organs include lungs, pancreas, bowel, vas deferens, sinuses and liver. The major indication of CF is a progressive, obstructive lung disease due to abnormal airway secretions, which leads to chronic airway infection, excessive inflammation, bronchiectasis and parenchymal damage.Over 85% of the individuals suffer from a pancreatic insufficiency and it results in malnutrition. Almost all males with CF suffer from infertility. Other complications like CF-related diabetes, chronic sinus disease, osteoporosis and cholestatic liver disease are also observed in different cases.
Treatment
Unfortunately, there is no cure for cystic fibrosis, but treatment can help in management of the symptoms and reduce complications. Close monitoring and early, aggressive intervention is recommended for cases detected. Often a specialized clinic and a team of doctors are required for treatment. The major goals of treatment include:
- Preventing and controlling lung infections
- Removing and loosening of mucus from the lungs
- Treatment and prevention of intestinal blockage
- Providing adequate nutrition to boost immunity
Surgical interventions are often necessary
The American College of Obstetricians and Gynecologists (ACOG) suggests that all couples who are planning for a child or those who are already pregnant, should be offered testing to find out if they are CF carriers.The disease attacks very early for the newborn. So screening is very important.
If a child is diagnosed with CF, all of the children of the same parents should be tested for the disease, even if they do not have any symptom . Other relatives also have a higher chance of being carriers of a CFTR mutation. This test is also recommended for them.
Annual mortality of CF is about 1-2% now in advanced countries . With improvements in organ transplants, there has been more years added to survivability.
Healthcare benefits:
Preventative therapy and early identification and treatment of symptoms, and awareness about susceptibility may make us to manage the diseases better to make the conditions easier to live with , specially in childhood.
We prefer a non-invasive sampling approach. Just two ml of your saliva deposited in a specialized collector at the ease of your home will do.
Our state of the art labs decode your personal genome and compares with the standard to look the variations.
All variations may not relate to a disease.Pathogenic variations are meticulously identified by our team of scientists.
All technical jargons simplified into an easy to understand report.
Our friendly genetic counsellor explains the report to you and answers your doubts if any
If any risk is identified, you may talk to a physician to work out a health plan of suitable alteration of a lifestyle, regular screening program and others.
Remember, awareness to a disease susceptibility is the first step to prevent or manage it.