Cystic fibrosis is a genetic disorder caused by changes in the cystic fibrosis transmembrane regulator (CFTR) gene, which creates an imbalance in sodium and chloride concentrations in the cells producing secretions in the body, such as mucus and sweat (exocrine glands)

The disease cannot be acquired throughout the lifespan, which means that a person needs to be born with cystic fibrosis to have it. Both the mother and the father necessarily carry the gene affected by this disease, even if they do not have symptoms of cystic fibrosis. The disease will become manifest only when the child inherits the mutations from both parents because then this child will carry two mutant copies of the CFTR gene.

Only those who are born with cystic fibrosis will have it. Both the mother and the father necessarily carry the gene affected by the disease, even if they do not have symptoms.

According to the Cystic Fibrosis Foundation, approximately 70,000 people live with cystic fibrosis in the world. In Brazil, there are around 3,000 people with the disease, according to the Brazilian Cystic Fibrosis Registry (REBRAFC), but there may be many other patients without adequate diagnosis and treatment.

Cystic fibrosis is characterized by the production of overly thick mucus that is not properly eliminated by the body. The buildup of mucus in body pathways and organs – such as lungs, pancreas, liver, and intestine – causes changes in the function of these organs.

In the lungs, this mucus buildup is associated with the appearance of bacteria that cause severe and chronic infections, which leads to pulmonary inflammation and risks for the patient's health.

The most common bacterium in chronic infections in patients with cystic fibrosis is Pseudomonas aeruginosa (Pa), which affects the lungs and airways. The thick mucus in the airways explains the popular name cystic fibrosis had for many years: mucoviscidosis.

The diagnosis of cystic fibrosis ideally starts with neonatal screening, also known as heel prick test. Although not definite, that is, it does not determine whether the baby has cystic fibrosis or not, the heel prick test can indicate the need for additional tests to confirm if the patient has the disease. Sweat test and genetic test are some of the tools used for the diagnosis of cystic fibrosis

The heel prick test, also known as neonatal screening, consists of collecting a few drops of blood from the baby's heel in the first week of life.

Importantly, a neonatal screening test is not definite, that is, it does not determine whether the baby has cystic fibrosis or not. It can, however, indicate that additional tests are needed to confirm whether the patient has the disease.

Doing a heel prick test is essential because it allows the diagnosis of cystic fibrosis before the first symptoms appear, which greatly improves the prognosis of patients. Early diagnosis also allows genetic counseling for parents and family members regarding future pregnancies.

The sweat test is done only when cystic fibrosis is suspected, and the approach consists of sweat induction and collection. The test measures the concentration of chloride in sweat, and levels above the reference range indicate the presence of the disease (60 mEq/L or higher, depending on the technique employed).

A cure for cystic fibrosis does not exist yet, but there is currently great investment and ongoing research. Recent advances already allow patients to live longer and with much more quality of life. For that to happen, early diagnosis and adherence to treatment are essential.

The treatment of cystic fibrosis is different for each patient, according to how severe symptoms are and which organs are affected by the disease. The treatment can be complex, demanding discipline, dedication, and time from the patients and their family members, who are also key participants in the treatment over the years

The life expectancy of a patient with cystic fibrosis cannot be determined because disease severity may vary widely, and many new medications have been introduced in recent years.

The advances in past decades have undoubtedly allowed a significant improvement in the prospects for people with cystic fibrosis. Many patients are reaching adulthood with a good quality of life, studying, working, developing relationships, and even having kids.

The definite way of knowing if a person carries or not the gene affected by cystic fibrosis is through genetic testing (a DNA test). Although the test is becoming increasingly common, access remains highly limited, and the interpretation of results may be complex.

However, if you suspect you may have cystic fibrosis because of manifestation of symptoms, please seek medical support as soon as possible to perform the tests required to either confirm or rule out the diagnosis.

In Brazil, there are many clinics and care centers specializing in the diagnosis, treatment, and follow-up of cystic fibrosis, where patients and their family members will have access to all information and measures required to fight the disease.

To access the list of care centers which have partnered with the Brazilian Cystic Fibrosis Study Group (GBEFC), click here.

If our list does not include a care center in your city or state, write to the GBEFC so we can advise you on where to seek support in your region