What is Cystic Fibrosis, Symptoms, diagnosis and Treatment of Cystic Fibrosis
Cystic fibrosis (CF) is a potentially fatal genetic disease. Seriously affects the lungs and digestive system. Currently there is no cure, but with the improvement of drugs and treatments, we can control the symptoms and thus life expectancy has increased significantly.
Cystic fibrosis (CF) is the most common lethal genetic disease in Caucasians. It primarily affects the respiratory tract (lungs), digestive system (pancreas and liver) and the reproductive system.
If a person has CF, mucus glands secrete a very sticky mucus. In the lungs, the airways and mucus clogs the small traps bacteria. Repeated infections and blockages can be irreversible lung damage and a shorter lifespan.
The pancreas also gets affected and reduce the release of enzymes for the digestion of food. This means that people with CF can have problems with the diet and should consume a diet high in kilojoules, fat, sugar and salt.
People with CF have difficulty clearing the mucus from the lungs and recurrent infections of the respiratory tract, can cause damage to the lungs over time. The thick mucus maintains the digestive pancreatic enzymes in the small intestine, which leads to problems with fat digestion and absorption of certain nutrients to achieve. Some people also have liver disease.
The symptoms of cystic fibrosis
- CF patients may occur:
- persistent cough, with great physical exertion difficulty breathing
- Impaired fatigue, lethargy , or physical performance
- Frequent trips to the bathroom
- Salt loss in hot weather , which can cause muscle cramps or weakness
- Loss of appetite.
Cystic fibrosis is an inherited chronic disease, genetic disease- the most common life shortening among young Australians today. In every four days a baby born with CF.
In Australia, one in 25 people are carriers of the cystic fibrosis gene. Carriers of the cystic fibrosis gene have no symptoms of the disease. When two carriers of the gene and have a child, each pregnancy:
- one in four chance that the child will have CF
- Possibility of two or four, that the child does not have CF, but contains the gene
- one in four chance that the child is not CF and no carrier.
The diagnosis of CF
Australia are tested all babies at birth for CF by the projection of the newborn. This involves collecting a blood sample. If the results of the test showed a very high level of a substance called immunoreactive trypsin (IRT), it is believed CF and blood DNA is then used for the most common mutation, which causes CF analyzed.
A sweat test can be done to measure the amount of salt (sodium chloride) in the sweat and will confirm the diagnosis.
Some babies can be due to a bowel obstruction shortly after birth, called meconium ileus diagnosed. Most babies with CF diagnosed in the first two months of life.
The treatment of cystic fibrosis
Treatment of CF can be complex and expensive. Currently there is no cure for CF. The treatment aims to decrease the progression of the disease and include:
- respiratory Physiotherapy
- Inhalation via a DruckluftpumpeVernebler
- Enzyme replacement capsules with meals and snacks
- a balanced diet rich in protein, fat and kilojoules
- additional vitamins
- salt supplements
- regular exercise.
- Regular participation in a large CF clinic is beneficial and recommended.
Genetic testing for cystic fibrosis
Carriers of a CF gene is healthy and often do not know they are carriers. If you are planning a pregnancy, you can now test to determine their status in cystic fibrosis. Victorian Clinical Genetics Services produces carrier screening for cystic fibrosis packages.
Where do I get help to know more about Cystic Fibrosis
- Your doctor or gynecologist
- Cystic Fibrosis Victoria Phone (03) 9686 1811 or 1800 633 685
- Cystic fibrosis clinics in Monash Medical Centre, Alfred Hospital or Royal Children
- Carrier screening program for cystic fibrosis
What to Consider
- There is no cure for cystic fibrosis, but the treatment may slow the progression of the disease
- One in 25 carry the gene , but not CF and have no symptoms
- Cystic fibrosis is usually diagnosed at birth
- Cystic fibrosis is not contagious
- Cystic fibrosis occurs in men and women
- Can now detect pre pregnancy tests when you carry the cystic fibrosis gene.