THE cystic fibrosis , which affects about 70,000 people worldwide, is the most common serious genetic disease of childhood. In Brazil, estimates by the Ministry of Health indicate that one in every 25 people carry the gene for the disease. The incidence in the country is one in every 2,500 newborns.
People with the disease produce mucus that is 30 to 60 times thicker than normal. The problem leads to the accumulation of bacteria and germs in the airways, which can cause swelling, inflammation and infections such as pneumonia and bronchitis, causing damage to the lungs.
Mucus can also block the digestive system and pancreas, which prevents the organs from working normally. Without proper functioning, the body does not absorb nutrients from food, essential for development and health.
The causes are associated with a defective gene and the protein produced by it.
“For an individual to have cystic fibrosis, it is necessary that both the father and the mother transmit a mutated allele in the gene called cystic fibrosis transmembrane conductance regulator (CFTR) to the child. Cystic fibrosis is characterized by a deficiency in the transport of ions across cell membranes, favoring the accumulation of mucus in the lungs and consequently respiratory problems, in addition to causing damage to the digestive system,” says researcher Giselda Cabello from the Laboratory of Human Genetics at Instituto Oswaldo Cruz (IOC/Fiocruz), in a statement.
symptoms and diagnosis
The signs of fibrosis cystic as well as the severity are different for each individual. Part of the symptoms is related to the genetic defect or mutation present in the gene, according to research that indicates that there are more than a thousand different types of mutation for this gene.
In general, the symptoms are linked to what the thicker secretion cause in the body. The manifestation of the disease ranges from dry and chronic coughs to the accumulation of thick mucus in the lungs, bulky, greasy stools to delay in child development.
In addition, patients have frequent respiratory infections, also called respiratory exacerbations, caused by bacteria such as pseudomonas aeruginosa. Infections worsen lung function and reduce quality of life.
O early diagnosis allows to increase the quality of life of the patient. Tests carried out during the prenatal period may point to cystic fibrosis. The disease can also be detected after birth, from the foot test .
“Early diagnosis is the key to this disease. If the cystic fibrosis mutations are detected early in life, the child will be able to start the correct treatment and have a practically normal life, increasing their survival”, says Giselda.
According to the Ministry of Health, the heel prick test is a mandatory test carried out in all newborns, in maternity hospitals or public or private health units. Collection for the exam should preferably take place between the 3rd and 5th day of the baby’s life.
Treatment
THE disease has no cure but if treated properly, it allows the patient to have a normal life.
O treatment it should be carried out according to age and the degree of the disease, and consists of respiratory physiotherapy, use of antibiotics, supplementation of pancreatic enzymes to facilitate digestion, in addition to a diet rich in proteins and vitamins.
The Fiocruz specialist warns of care for lung problems caused by the disease.
“The great villains of cystic fibrosis are lung diseases. Gastrointestinal problems and pancreatic insufficiency can be alleviated by supplementing enzymes every day, but lung infections, over time, destroy all lung tissue,” he said.
Source: CNN Brasil
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