Cystic fibrosis (FC) is an inherited anomaly that is caused by the modification (mutation) of the CFTR (cystic fibrosis transmembrane conductance regulator) gene. This gene encodes a protein found in the epithelial cells of various organs and systems of the body: lungs, pancreas, colon, reproductive tract.
By mutation of this gene, the protein can no longer fulfill the function of the channel of transport of Cl- ions through the cell membrane, so that the mucus produced by these cells is very viscous, adherent and dry.
In the lungs, the mucus can cause severe respiratory problems and lung disease. In the pancreas, the mucus causes digestive impairment and malnutrition, which can cause the normal growth and development of the baby.
Cystic fibrosis is usually diagnosed during childhood. While life expectancy for people with cystic fibrosis is approximately 32 years, new treatments improve symptom control and thus increase life expectancy.
Causes of cystic fibrosis
Cystic fibrosis is a genetic condition. A child develops cystic fibrosis, only if he inherits two defective (pathological) genes for cystic fibrosis (one from each parent).
If only one parent carries the defective cystic fibrosis gene, the child will not develop the disease; however, they are 50% likely to become cystic fibrosis.
If both parents are carriers of the defective cystic fibrosis gene, there is a 25% chance that the child will develop the condition and 50% are likely to become the carrier only.
If investigations show that a person is carrying the defective cystic fibrosis gene, partner testing is also required.
If the analysis indicates that the partner is not a carrier of the defective cystic fibrosis gene, there is a small chance for the child to develop the disease.
Even before becoming pregnant, the woman can request a genetic consultation to understand the risks and options she has if she decides to have children.
In pregnant women, they may require additional tests (amniocentesis or examination of chorionic villi) to determine whether or not the fetus has cystic fibrosis.
Screening for cystic fibrosis
What is screening for cystic fibrosis carriers?
Screening of cystic fibrosis carriers is a blood test that determines whether or not the person is the carrier of the pathological gene. The analysis helps determine a couple's risk of having a child with cystic fibrosis.
Who should attend the screening?
Genetic tests are available for screening of people who want to find out whether or not they are carrying the pathological cystic fibrosis gene. This type of genetic testing allows parents to find out if they have an increased risk of having a child with cystic fibrosis.
Anyone who is interested in finding out whether or not he is a carrier of the defective cystic fibrosis gene can apply for this test, but it will not be performed without the advice of a specialist doctor. The genetic counseling should be done before the genetic tests, because it explains to the parents the significance of the genetic tests and the possible results obtained.
The screening of cystic fibrosis carriers is recommended to the following persons:
The decision to participate in the screening of cystic fibrosis belongs to each person. In case there is a suspicion related to the presence of the defective gene in one of the partners, they may request a test to detect the presence of the gene.
Some people may require this test to determine the risk of this condition occurring in the child. In the white population, about 1 in 29 people is carrying the defective cystic fibrosis gene, this incidence being lower in other races or ethnic groups.
Testing to detect the carriers of the cystic fibrosis defective gene is expensive, so this fact may influence the decision to be tested or not.
Requesting the test of the carrier status of the defective cystic fibrosis gene can also come from a pregnancy, and the results may influence the decision to keep or not pregnancy or help the pregnant woman to make a decision regarding the care of the newborn.
Screening determines whether or not a person is carrying the defective cystic fibrosis gene with 90% accuracy. There is a small risk of being a gene carrier even if the test result is negative.
Refusal of screening
There are several reasons why a person may decide not to attend the screening:
Symptoms and treatment for cases of cystic fibrosis
Respiratory symptoms they are: repeated infections, due to the accumulation of viscous mucus that creates a favorable environment for growth of pathogenic microorganisms, chronic and persistent cough, recurrent bronchitis, pneumonia, bronchectomy, pneumothorax, hemoptysis, digital hypocracy, pulmonary heart, sinusitis, nasal polyps.
Almost all patients with CF (over 90%) present exocrine pancreatic insufficiency, and the symptoms related to it are chronic diarrhea, with steatorrhea, bulky stools, fetids, growth failure, meconial ileus, distal intestinal obstruction, rectal prolapse. In the of the hepatobiliary system prolonged neonatal jaundice may occur.
complications of the reproductive tract include: delayed puberty, sterility in men and reduced fertility in women.
Currently there is no curative treatment for FC. The treatment of the symptoms is a very complex one, it is applied for a long time (all the life) and it aims to maintain the optimal state of nutrition, the control of the pulmonary infection, the improvement of the secretion of the mucous secretions, the treatment of the complications, the psychological support of the patient and the family.
Treatment of exocrine pancreatic insufficiency is based on the (exogenous) substitution of pancreatic enzymes. The doses are set so that a normal intestinal transit and, consequently, a good nutritional status are obtained. The diet provides for the increase of the energy intake up to 120 - 150%, through the high calorie diet, with high protein and lipid content. Due to lipid malabsorption, there is a deficiency of fat-soluble vitamins A, D, E, K and thus the diet should be supplemented with these vitamins. To this is added the salt supplement, especially during hot periods, during intense physical exertion or in feverish states.
Treatment of lung disease it refers to two aspects: the antibiotic treatment of the lung infections and the mucus clearance that accumulates in the respiratory tract, this being achieved by the administration of drugs, by physiotherapy and physical activity. Treatment of pulmonary infections is done by antibiotics, usually depending on the sensitivity of the germ isolated from the laryngotracheal secretions. In these patients, antibiotic treatment is done with higher doses and longer durations than in healthy people. A major problem with repeated administration of antibiotics is the emergence of resistant forms.
Clearance of bronchial secretions is done by physiotherapy, using various techniques, depending on the age, compliance and lung status of the patient (percussion and postural drainage, active cycle of respiratory techniques, autogenous drainage, positive expiratory pressure-PEP, high positive expiratory pressure, expiratory pressure positive oscillating-flutter, therapy by high frequency oral oscillations), but also by physical exercises (jumps to trampoline, swimming, gymnastics, etc.).
Mucolytic substances (N-acetylcysteine, alpha dornase, hypertonic NaCl solution) are used in aerosols, prior to physiotherapy sessions, to reduce mucus viscosity.
Bronchodilators it is given as needed to open the airways and to facilitate the removal of mucus. These can be administered orally, injectable or aerosolized (this method is preferable because it has a rapid, local action and side effects are minimal). In patients with CF, due to chronic airway infection, inflammatory processes are present at this level, which results in permanent tissue destruction and loss of function. Anti-inflammatory drugs (corticosteroids, non-steroidal anti-inflammatory drugs) are used to prevent this.
In Romania, the quality and life span of these patients are still low. The level of information of parents and patients regarding FC is still small! The access of patients to specialized medical care is limited, the possibilities of cystic fibrosis centers to care for patients according to international standards are reduced (in particular, due to the lack of specialized personnel and financial resources necessary for the purchase of equipment, medicines, for the setting up of medical units. hospital or for the training of medical personnel).
The information was provided to us by Georgiana Nitu, president of Cystic Fibrosis Association of Romania. AFCR is a non-profit organization, founded in 2008 at the initiative of some parents, which aims to represent the interests of patients suffering from cystic fibrosis (mucoviscidosis) and to improve the quality of their life; The association aims to support patients and parents with children affected by this disease, by supporting campaigns to inform patients / parents, but also to the general public about this disease and to fight for the rights of patients with cystic fibrosis.
One such example is the situation of these patients, a situation created by the Ministry of Health that removed, from September 2008, from the list of 100% compensated drugs, an indispensable drug for these patients, namely, pancreatic enzymes. The Association of Cystic Fibrosis in Romania has repeatedly requested its reintroduction on the list of gratuities. This drug was excluded on the grounds that it was registered as OTC (over-the-counter, issued without a prescription), but the Ministry of Health violated the law because, according to Order no. 318/2008, there are exceptions, if the OTCs have specific indication in a rare serious disease, such as cystic fibrosis!