There is no cure for cystic fibrosis, but treatment reduces its effects on the body

Cystic fibrosis affects about 70,000 people worldwide and is the most common serious genetic disease in childhood. In Brazil, the Ministry of Health estimates that one in 25 people carries the gene for the disease. This fact corresponds to an observed frequency of approximately 1 in 2500 newborns.

The disease occurs because a faulty gene and the protein that makes it cause the body to produce mucus 30 to 60 times thicker than normal. Thick mucus leads to a buildup of bacteria and germs in the airways, which can cause swelling, inflammation, and infections such as pneumonia and bronchitis, which can damage the lungs.

This mucus can also block the digestive system and pancreas, preventing the organs from functioning normally. Without proper functioning, the body does not absorb nutrients from food, which are essential for human growth and health.

Cystic fibrosis symptoms and their severity vary from person to person. Recent research shows that part of the symptoms depend on the type of genetic defect or mutation that the gene has. There are more than a thousand different types of mutations for this gene. As a rule, the symptoms are associated with what caused the thick secretion in the body.

Faced with a disease of such a serious prognosis and whose symptoms usually appear in the first years of life, follow-up of newborns, during and after pregnancy, is of fundamental importance for obtaining adequate care. Cystic fibrosis can be identified through a heel prick and diagnosed through genetic testing. The test must be performed on samples collected within 30 days of the newborn’s life. The confirmatory test for suspected cases is the measurement of chlorides in the sweat “sweat test”.

The disease still has no cure, but if diagnosed early, it can be treated by greatly reducing its effects on the body. Physical exercises should be part of the treatment according to the patient’s capabilities. It contributes to improving the function of the respiratory system, helps to gain muscle mass, control diabetes associated with cystic fibrosis, and prevent osteoporosis, in addition to correcting some acquired postural defects due to respiratory problems.

Priscilla Martins dos Reis

Pediatric lung disease