Cystic Fibrosis is belongs to those diseases that are classified as rare and it is a genetic and recessive disease. This means that healthy parents are carriers of the disease and can have an ill child if he presents a mutated gene called CFTR gene and which is located on the long arm of chromosome 7b.
This mutation is responsible for the bad functioning in the chloride channel of the cellular membrane and ultimately the cause of the bad functioning of the organs that should segregate mucous substances. These organs are lung, liver (bile duct), sweat glands, pancreas, genitourinary system and intestine.
CF is a multisystem disease that produces very thick secretions in the respiratory system and also a chronic respiratory infection as the secretions get infected with bacteria that are very difficult to eradicate.
Years ago it was a children’s disease as the affected patients did not reach the adult age. Today and thanks to the improvement of diagnostic and treatment techniques, the life expectancy is much higher and patients make it to adult age without problems.
Nowdays the diagnosis has advanced greatly with a neonatal screening (elevation of Immunoreactive trypsinogen (IRT)), and the disease affects 1 out of 4.500- 5.000 newborns. It can also be diagnosed by measuring the amount of chloride in sweat and through a genetic test.
The most common manifestations are recurrent respiratory infections, problems of malabsorption of nutrients, diabetes, chronic sinusitis and nasal polyps, male infertility, osteoporosis and a chronic loss of salt in sweat.
The fundamental treatment is the suitability of the antibiotic according to the bacteria that causes the respiratory infection in addition in addition to the respiratory physiotherapy and rehabilitation. It is also of great importance to use inhaled medication through osmotic therapy to improve the hydration of the secretions and nebulized mucolytics. Another important mainstay of treatment is the nutritional treatment, since these patients are in a state of chronic malnutrition.
In recent years further progress is being made in gene therapy to correct the defect in the chloride channel that is altered, but these drugs are currently under study.
At HC Marbella International Hospital we offer patients suffering from cystic fibrosis a close and multidisciplinary follow-up for an early and directed treatment of respiratory infections, performing sputum cultures, spirometry, imaging tests and bronchoscopy to monitor the disease. We also count on a multidisciplinary team for respiratory physiotherapy and rehabilitation.
Patients wit CF have to apply themselves rigorously and with dedication to the performance of respiratory physiotherapy as it is a mainstay to reduce the number of respiratory infections which define the prognosis of this disease. Also they have to be very conscientious in their nutrition and the intake of nutritional supplements and vitamines and, at the slightest sign of respiratory infection, urgently go to a specialist in order to be evaluated and to start an early treatment to minimize any possible damage to the lungs.
November 19, 2019
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