Cystic fibrosis

What is cystic fibrosis?

It is a genetic alteration that affects various parts of the body that produce secretions, leading to an increase in their thickness and causing obstruction of the channels that transport them. The stagnation of these thick fluids leads to infections and inflammations in these areas: lung, livers, pancreas and reproductive system.

It is a serious disease that today has no cure. It affects 1 in 3,500 newborns and 1 in 30 healthy individuals are carriers of the disease.

It is also known as mucoviscidosis.

Causes

It is an autosomal recessive genetic disease, that is, if the defective gene is inherited from both parents, the disease will be suffered, if a normal gene is inherited and a defective gene carries the disease without suffering it but with the possibility of transmitting it to the offspring .

The Cystic Fibrosis gene is housed on chromosome 7.

It is due to a small genetic mutation that produces mucus and thick secretions, which plug the ducts and damage the organs and their function.

Symptoms

The most characteristic symptoms of the disease are: salty taste of the skin, problems, diabetes and little weight gain. The manifestations of the disease, which are variable from one child to another, emerge over time. Initially, the affectation and symptoms tend to be predominantly digestive (increased fat in the stool due to pancreatic insufficiency, malnutrition, intestinal malabsorption, etc.) but finally, respiratory symptoms tend to predominate, in the form of repeated lung infections and progressive lung damage. The degree of lung involvement is the key in the prognosis of CF.

Diagnosis

Early diagnosis is essential to prolong the life expectancy of these children and improve its quality. In many Autonomous Communities, early diagnosis plans for Cystic Fibrosis are carried out in the first days of the child's life (neonatal screening). It is the popularly known "Heel Test", which is performed after 2 days of life and consists of obtaining a few drops of blood from the baby's heel to analyze. In older children in whom the diagnosis is suspected, the sweat test should be performed: it consists of determining the amount of chlorine and sodium in the sweat. If the test is altered (increased salt concentration in sweat) the mutation of the gene that causes the disease in the child should be studied.

Treatment

It is a disease of which many aspects are known but which currently has no curative treatment. The palliative treatment of symptoms should be applied as early as possible and is based on three pillars:

• Adequately nourish the child: it is a key point to extend their life expectancy
• Avoid inflammation and respiratory infection: using antibiotics
• respiratory physiotherapy to improve lung capacity and strengthen the chest muscles and clear the respiratory tract of secretions
• It is interesting that children with Cystic Fibrosis practice some sport such as swimming.

When the disease is in a very advanced stage, there is the possibility of performing a lung and / or liver transplant. The organism tends to naturally reject the transplanted lung and, therefore, the child must receive, for life, an immunosuppressive treatment to avoid rejection.