Cystic fibrosis is a rare inherited/genetic disease which affects multiple organ systems of the body. Though it is a multi-systemic disorder, the most commonly affected areas are the digestive and the gastrointestinal systems. This disease progresses from infancy on to adulthood and several affected individuals die from end-stage lung disease.
It is a genetic condition where due to a gene mutation, secretions in the body become viscous or thick. This results in a blockage of airways and other ducts in the body which leads to increased pooling of bacteria, viruses and other harmful microorganisms. Therefore, children with cystic fibrosis are prone to respiratory tract infections which can eventually lead to lung failure.
What are the cystic fibrosis causes?
Cystic fibrosis is transmitted through genetics. If both the mother and the father are carriers of the gene that can cause cystic fibrosis, their child has a 1 in 4 chance of developing the disease. Cystic fibrosis is an autosomal recessive disease which means that for a child to get the disease, the gene coding for cystic fibrosis should come from both parents. If only one parent has this gene, there is a chance that the child might become a carrier (one who has one copy of the gene necessary to cause cystic fibrosis but does not have the disease itself).
What are the cystic fibrosis symptoms?
The commonest symptoms of cystic fibrosis are seen in the gastrointestinal and respiratory systems. The patient complains of a recurrent wheeze or cough, frequently occurring chest infections, difficulty in breathing with exertion or when lying down, and chest pain.
Patients may also have a bloated stomach, frequent passage of stools, growth failure, abdominal pain, yellowish discoloration of eyes and body, and increased passing of wind.
How does my doctor make the cystic fibrosis diagnosis?
Genetic screening is the test recommended to detect cystic fibrosis. Once this diagnosis is made, necessary steps can be taken to counsel parents and to relieve certain symptoms of the disease.
What is the cystic fibrosis treatment?
Since cystic fibrosis is a genetic disorder, there is no known cure for it yet. Hence the aim of cystic fibrosis treatment is to manage or lessen the symptoms and improve the affected person’s overall quality of life.
Respiratory tract infections are treated with strong antibiotics and other drugs that help open up the airways. These are used together with drugs that break down mucous secretions to relieve blockage. Chest physiotherapy is extremely important in keeping the airways open.
A detailed nutrition plan is put in place as these children run the risk of growth failure. A good diet ensures they grow strongly and steadily. Growth is monitored constantly using growth charts.
What is cystic fibrosis screening?
Screening is a process by which, using special tests, certain diseases that are prevalent within a population are detected. Cystic fibrosis screening is especially important as the effects of the disease can be seen from infancy to well into adulthood.
The screening process is simple where the blood sample from one of the partners is tested for cystic fibrosis. As genes have to come from both partners in order for the child to have cystic fibrosis, testing only one partner is adequate to detect the condition.
What should we do if one partner is tested positive?
If one partner tests positive for the cystic fibrosis carrier gene, the other partner is tested as well. If the other partner does not have the carrier gene, the disease can be ruled out. In the event that both partners test positive for the carrier gene, options such as sperm or egg donation can be considered and fertilization can be achieved with IVF in order to produce a healthy foetus.
If only one partner is tested positive, the conventional methods of pregnancy are safe. However, the fact that the child may be a carrier of the disease should be noted in his or her medical history for future reference.