Cystic fibrosis, causes and possible treatments

Cystic fibrosis, causes and possible treatments

The topic in question is not the simplest since it is an invisible disease whose morbidity is still high, but on the other hand, research is making great progress and in addition to the therapies of the symptoms, personalized treatments aimed at genetic causes are being prepared. .

cystic fibrosis

  • Cystic fibrosis, what it is
  • Cystic fibrosis, the causes
  • Cystic fibrosis, symptoms
  • Cystic fibrosis, how to live with it

Cystic fibrosis, what it is

Cystic fibrosis is a very severe multi-organ genetic disease. What does it mean? It is a disease that can affect various systems , especially the pulmonary and digestive systems: an overproduction of very dense mucus affects the bronchi, with severe respiratory infections, clogs the pancreas and its ducts, preventing
the secretion of enzymes essential for digestion and assimilation of nutrients. 

About one third of those with cystic fibrosis have a form of diabetes related to insulin insufficiency (CFRD). This leads to an increased need to drink and urinate, fatigue, weight loss.

Mucus inflammations are recurrent and persistent and lead to severe lung tissue degradation and cause of mortality.

Cystic fibrosis, the causes

Cystic fibrosis is a genetic disease caused by the  mutation of a gene called CFTR (Transmembrane Conductance Regulator of Cystic Fibrosis).

The functional deficit of the CFTR protein impairs the functionality of all the secretory glands of the mucus, causing a lack of chlorine in the secretions, which will be sticky and stagnant, resulting in inflammation and infection of the tissues.

The disturbing aspect is that there are more than 2000 mutations in the CFTR gene and all of them are different and 127 of these cause cystic fibrosis. The disease can occur in children who inherit an altered double copy of the CFTR gene from both parents with an incidence of 1 in 4 cases. 

Parents who have only one altered copy of the CFTR gene do not have cystic fibrosis, but they are healthy carriers of the gene and this alteration has a frequency of about 1 in every 25 people. This data is important to underline how much a genetic test should be recommended : statistics state that in Italy 1 out of 2,500-3,000 children is affected by cystic fibrosis, with no difference between males and females.

Cystic fibrosis, symptoms

Cystic fibrosis is a multi-organ disease and mainly affects the lungs, pancreas and  intestines . The symptoms most
highlighted are:

  • Persistent cough that evolves into a fat cough
  • Wheezing and shortness of breath
  • Weight fluctuation
  • Intestinal obstruction
  • Diarrhea
  • Gastroesophageal reflux
  • Salty sweating

Diagnosis generally occurs in the neonatal age and is divided into 3 ways:

  • Neonatal test : A blood test from a small sample taken from the baby’s heel
  • Sweat test: sweat test induced in an area of ​​skin thick with sweat cells
  • Prenatal test : examination performed in the first months of pregnancy on mothers with a family history of cystic fibrosis.


Cystic fibrosis, how to live with it

The treatments are pharmacological, but there are some indications to be able to live with cystic fibrosis and help prevent inflammatory peaks .


  • Nutrition : For those with cystic fibrosis, researchers recommend having 3 main meals and 2 snacks in between. It is essential to integrate a diet rich in energy, fats and proteins. Foods recommended by nutritionists dealing with cystic fibrosis are eggs , whole yogurt, low-fat cheese, nuts , cereals ,  avocado , tuna, salmon, chicken, peanuts , almonds , carbohydrates.
  • Physical exercise : regular physical activity increases heart rate and muscle endurance: brisk walking, running, swimming and aerobic activities are recommended. On the other hand, sports at high altitudes or involving pulmonary pressure are not recommended.


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