What is it?
Cystic fibrosis (also known as mucoviscidosis) is a chronic, inherited disease associated with lung and nutritional problems. Caused by changes in a particular gene (CFTR) that is passed from parent to child, fibrosis consists of dysfunction of the exocrine glands that produce abnormal secretions (thicker mucus). This is an autosomal recessive disease that usually manifests itself in childhood, so it is necessary that both parents are carriers of this genetic alteration (it only manifests itself if there are two recessive genes).
This disease affects mainly the digestive and respiratory tracts, but can affect any organ. It tends to get worse, depending on the type of mutations and environmental factors, and thus has various degrees of severity.
Unfortunately, there is no cure for cystic fibrosis, although the quality of life for patients has improved greatly over the past 20 years.
It affects about 1 in every 2,500 newborns, with 30 to 40 children born with cystic fibrosis every year in Portugal, and it is estimated that 7 million people are carriers of this genetic abnormality.
Symptoms
Patients may experience the following symptoms:
Coughing with thick mucus;
Shortness of breath;
Frequent respiratory infections, including pneumonia and bronchitis;
Sinusitis;
Nasal polyposis;
Intestinal disturbances - frequent obstructions and fatty stools;
Weight loss;
Salty tasting skin and sweat;
Fertility problems;
Malnutrition and growth retardation.
Aggravating Factors
There are several ways to alleviate the symptoms of the disease, but there are also some factors that aggravate these symptoms, namely tobacco and environmental pollution.
Diagnosis
Most patients with cystic fibrosis are still infants when diagnosed. A child with a family history of cystic fibrosis is more likely to be a carrier of the disease.
Confirmation of mutations in the CFRT gene (q.f. transmembrane conductance regulator gene) is the basis for diagnosis, which can be done by genetic testing:
Prenatal screening (before birth);
Neonatal screening (the heel prick at birth);
Sweat test to measure chloride levels;
Biochemical testing.
Treatment
The types of treatment that can be carried out to alleviate the symptoms of cystic fibrosis, in order to improve the patient's quality of life, taking into account their age and the degree of progression of the pathology. Health professionals usually use antibiotics and bronchodilators. In extreme cases, a lung transplant may be necessary.
In 2021, Constança Braddel's case generated a wave of solidarity in social networks, in which they appealed to infarmed to approve kaftrio in Portugal.
Kaftrio is a drug that can prevent the early death of many Q.F. patients. Its effectiveness is superior to other types of treatment, but not all patients can take it. The earlier the patient takes this medicine, the longer life expectancy.
Fibrosis and infertility
Most men with cystic fibrosis are infertile (about 98%) because they have azoospermia (lack of spermatozoa), but they are not sterile (they have an abnormality in their sexual organs). As for women, there is no change in their reproductive organs, however, due to the increased viscosity of the mucus in the cervical area, they may have more difficulty becoming pregnant.
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