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 by the name of mucoviscidosis.
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 is a carrier of the disease without suffering from it but with the possibility of transmitting it to the offspring .
The Cystic Fibrosis gene resides on chromosome 7
It is due to a small genetic mutation that produces thick mucus and secretions, which clog the ducts and damage the organs and their function.
The most characteristic symptoms of the disease are: salty taste of the skin, respiratory and digestive problems , diabetes and poor weight gain.
The manifestations of the disease, which are variable from one child to another, emerge over time.
Initially, the involvement and symptoms are usually 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 recurrent lung infections and progressive lung damage.
The degree of pulmonary involvement is the key to CF prognosis.
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 practiced from 2 days of life and which consists of obtaining a few drops of blood from the baby’s heel to analyze.
In older children in whom the diagnosis is suspected, a 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 the sweat), the mutation of the gene that causes the disease in the child should be studied.
It is a disease of which many aspects are known but which currently has no curative treatment.
Palliative treatment of symptoms should be applied as early as possible and is based on three pillars:
- Properly nourish the child: it is a key point to extend their life expectancy
- Avoid inflammation and respiratory infection: through antibiotics
- Respiratory physiotherapy to improve lung capacity and strengthen the chest muscles and clear the airways of secretions
- It is interesting that children affected by Cystic Fibrosis practice a 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 body naturally tends to reject the transplanted lung and, therefore, the child must receive lifelong immunosuppressive treatment to prevent rejection.