Cystic fibrosis

DESCRIPTION

Cystic fibrosis is the most common autosomal recessive genetic disorder in the Caucasian population as it affects approximately 1 out of 2.500 individuals.
The pathology is caused by the defective CFTR gene that encodes a protein whose function is to transport the chlorine through the epithelial cells.
Under normal conditions, specific cells that cover the respiratory tract secrete mucus together with the watery liquid which reduces the density. In cystic fibrosis the secretion of this watery fluid is considerably reduced, so the mucus becomes very thick and hardly removable from the respiratory tract even by a more energetic cough. Thus, it poses the risk of respiratory, pancreatic and biliary obstruction, which result in the progressive loss of involved organs (bronchus, lungs, pancreas, liver).
The disease can manifest itself more or less prematurely by impairing the respiratory system (whooping cough, persistent catarrhal cough, recurrent bronchitis and bronchial pneumonia, chronic bronchial pneumopathy) and/or with digestive disorders due to pancreatic insufficiency (malabsorption syndrome, stunted growth). Less frequently, and depending on the age of patients, there can appear other clinical conditions (meconium ileus, liver disease, diabetes, sinusitis, nasal polyps, osteoporosis). The advanced stages of the disease are characterized by the onset of severe complications (cardio-respiratory failure, pneumothorax, hemoptysis, biliary cirrhosis).
Thanks to various methods, the suspected diagnosis may be established since the birth, but the most common mode is determining the trypsin in the blood on the fourth day of life.
The diagnostic certainty comes with the sweat test that shows that there is a high concentration of sodium and chloride in the sweat and/or identifies gene mutations.
In case of families at risk, it is possible to establish the prenatal diagnosis during the first quarter of pregnancy by taking the chorionic villus sampling.

CAUSES

Given that cystic fibrosis is an inherited disease that is transmitted in an autosomal recessive way, it is important to evaluate the family story of prospective parents.
The parents of a child with cystic fibrosis have both a defective CFTR gene and a functional CFTR gene. The parent is not sick because the functioning gene allows the production of the enzyme and its smooth operation; the parent is regarded an "immune carrier". In children with cystic fibrosis both inherited CFTR genes are defective.

TREATMENT

The treatment of cystic fibrosis aims at hindering the development of the disease and it is mainly based on:

  • respiratory physiotherapy to promote the removal of mucus from the bronchial tubes;
  • administration of pancreatic enzymes;
  • balanced hypercaloric diet;
  • antibiotic therapy of respiratory infections; targeted against germs that are isolated from bronchial secretions;
  • medical therapy and/or surgery of complications.

Patients with cystic fibrosis have the altered levels of fatty acids in the blood and tissues. Specifically, they have low levels of essential long-chain polyunsaturated fatty acids. Omega-3 and one of these fatty acids, the so-called docosahexaenoic acid (DHA) is lower than arachidonic acid (Omega-6), which has instead increased. Such an imbalance could frequently create a condition possibly leading to an inflammatory state, which is especially common in the lungs. From here derives advice which has been even confirmed by several preliminary clinical studies; the advice is to follow a diet rich in Omega-3 in order to raise its levels and counteract the inflammatory process resulting from the higher levels of Omega-6.

INFORMATIVE WEBSITES

LIFC (acronym from Italian) – Cystic Fibrosis Italian League: www.fibrosicistica.it
SIFC (acronym from Italian) – Italian Society for (the study of) Cystic Fibrosis: www.sifc.it

DMF SOLUTIONS

The DMF Richoil™ products for people with cystic fibrosis are a valuable aid to reduce the infammatory state.