The name Cystic Fibrosis refers to the characteristic processes of scarring (fibrosis) and cyst formation within the pancreas. Disease first described in 1930. Disease historically also known as Mucoviscidosis (from the Latin muccus, “mucus” and viscosus “sticky”).

Cystic Fibrosis (Mucoviscidosis) is an autosomal recessive inherited genetic disease that primarily affects the lungs, pancreas, liver and intestines, causing the accumulation of thick, sticky mucus in these organs. It is a chronic lung disease mostly common in children and young adults and is life-threatening. Patients usually die from lung infections caused by Pseudomonas and Staphylococcus.

Cystic Fibrosis (CF), is caused by a mutation in the gene encoding the regulatory protein transmembrane conductance cystic fibrosis (CFTR). This protein is involved in the passage of chloride through cell membranes and its deficiency alters the production of sweat, digestive juices, and mucus. The disease develops when neither allele is functional. Described over 1500 mutations for this disease, most of them are small deletions or point mutations; less than 1% are due to mutations in the promoter or chromosomal rearrangements.

CF affects multiple organ systems, causing abnormal and thick secretions of exocrine glands. The main cause of morbidity and mortality is lung involvement, which causes 95% of deaths, especially by repeated infections and caused by bronchial obstruction due to very thick mucus secretion. Other affected organs are the pancreas and especially men’s reproductive system.

It is one of the most common genetic disease in Caucasians, with an incidence in this population of approximately 1 / 5,000 live births. An estimated 1 in 25 people of European descent carries a nonfunctional allele.

Patients have a high concentration of salt (NaC1) in sweat, so you can get  the diagnosis by performing an analysis sweat test. Also by prenatal and / or neonatal genetic testing.

It is an evolutionary disease with a limited life exceptancy and daily with no cure.

Early diagnosis can prolong life expectancy of people with cystic fibrosis and improve their life quality. It consists of a simple technique, usually called Neonatal Screening.

In recent years, significant advances have been presented in the disease knowledge and the development of new products that facilitate treatment. Still, it remains a disease with no cure. When the disease reaches very advanced stages and complications there is a possibility for a lung and / liver transplant.

Treatment of Cystic Fibrosis is based on three pillars:

  • Proper nutrition
  • Medications (antibiotics, inhalers, anti-inflammatories, etc.).
  • Physiotherapy (physical exercise, practicing a sport).

Inborn Errors of Metabolism

Therapeutic Areas






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