Cystic Fibrosis

Cystic fibrosis is the most frequent recessive rare genetic disease in the world. It is characterized by a gene defect that causes an abnormal functioning of the CFTR (Cystic fibrosis transmembrane conductance regulator) protein, involved in the transmembrane transport of salts, in particular chlorine. As a consequence of altered ionic transport in the cell, cystic fibrosis is manifested by an alteration of the secretions of the epithelial cells in all organic districts (bronchial tubes, nasal sinuses, pancreas, bowel, bile ducts, sweat glands). This serious disease widely impacts the quality of life. People with cystic fibrosis have poorer health and must devote themselves to a daily routine of therapies to ensure to preserve their healthy status. These therapies include respiratory physiotherapy, antibiotic-aerosol therapy and adequate integration of specific nutritional elements.

Clinical manifestations

The most evident clinical manifestation of Cystic Fibrosis is the typical "salty sweat", caused precisely by the apparent genetic defect of the CFTR protein which involves a high loss of mineral salts in sweat.  

 The most common complications of Cystic Fibrosis are borne by the respiratory and digestive systems. Patients with this disease also easily incur dehydration. 

The dense secretions produced at the pancreatic level involve difficulties in digestion and absorption of many micronutrients, with consequent possible growth deficiencies and diarrhoea. 

At the respiratory level, where the very dense mucus is difficult to expectorate, the most severe problems are generally borne by the bronchi, where the viscosity of the mucus makes it difficult for inhaled particles to be removed by the bronchial cilia. The mucus therefore fails to fulfil its main task of facilitating the removal of inhaled particles causing extremely favourable conditions for bacterial colonization due to stagnation in the upper and lower airways.


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