Cystic fibrosis in children

Cystic fibrosis in children

Cystic fibrosis is a serious genetic abnormality that affects the lungs and digestive tract. Children suffering from this condition are prone to repeated infections in the lungs. Although there is no cure to completely cure the disease, recent discoveries to develop new therapies can provide children with a long and comfortable life.

What is cystic fibrosis and what are the causes?

Cystic fibrosis disrupts the normal functioning of epithelial cells. These make up the sweat glands of the skin and are found in several systems and organs: lungs, pancreas, colon, reproductive tract.

Hereditary anomaly is caused by CFTR (cystic fibrosis transmembrane conductance regulator) gene modification. This gene has the role of encoding a protein found in epithelial cells. The mutation prevents the proper functioning of the protein that is responsible for the production of sweat, mucus and digestive juices.

What are the symptoms of cystic fibrosis in children?

Manifestations of the disease differ from child to child and depend on how severe the evolution of the disease is. Symptoms may alternate in the same child - sometimes they may be more severe, sometimes moderate or less pronounced. In some children they start early in childhood, while in others they can only manifest in adolescence or adulthood. Most of the symptoms are localized in the digestive and respiratory systems.

One of the first symptoms of cystic fibrosis is the excessive saltiness of the skin. Children suffering from this anomaly tend to have very high amounts of salt in the sweat.

The thick, sticky mucus associated with cystic fibrosis blocks the tubes that carry air into the lungs. The events are:

  • persistent cough;
  • panting;
  • repeated lung infections;
  • repeated sinus infections.

The same thick mucus can block the tubes that carry digestive enzymes from the pancreas to the small intestine. Without these digestive enzymes the intestines cannot completely absorb the nutrients from the foods you eat. Symptoms include:

  • oily, odorous stools;
  • difficulties in weight accumulation and growth;
  • abdomen swollen from constipation;
  • intestinal blockage, especially in newborns.

When is the case to go to the doctor with your little one?

It is important to take the baby to a check if you notice that:

  • does not develop normally;
  • has a productive cough;
  • has repeated sinus and lung infections;
  • it has frequent fat stools, with a very bad smell.

What complications can occur?

The complications associated with the anomaly are localized both in the digestive system and in the respiratory system:

  • bronchiectasis;
  • chronic infections (lungs, sinuses);
  • lung failure;
  • nasal polyps;
  • respiratory failure;
  • nutritional deficiency;
  • diabetes;
  • blocking the bile duct;
  • rectal prolapse;
  • intestinal invagination;
  • osteoporosis;
  • electrolyte imbalances.

What is the treatment of cystic fibrosis?

Therapeutic behavior is designed to relieve symptoms and reduce complications. The therapies used are aimed at improving and prolonging the lives of children. Among the therapeutic methods used and applied in cystic fibrosis are:

  • pancreatic enzymes;
  • vitamin supplements;
  • bronchodilators;
  • mucolotic agents;
  • antibiotics;
  • adequate diet;
  • surgery;
  • physiotherapy etc.

There is also an outpatient treatment and special care that must be applied at home to the sick child with cystic fibrosis. You must ensure that its diet is rich in essential nutrients, vitamin supplements and oral pancreatic enzymes.

It is important for the baby to be constantly hydrated to cause thinning of the mucus in the lungs, which makes it easier for the cough to remove.

Tags Genetic diseases Hereditary diseases