World Cystic Fibrosis Day

As every September 8 since 2013, World Cystic Fibrosis Day is celebrated in order to raise awareness of this rare disease.

Cystic fibrosis (CF) is a rare multisystemic and complex genetic disease that mainly involves the respiratory tract and the pancreas. In a general way it causes accumulation of thick mucus in different areas of the body causing obstruction and destruction of different organs. Morbidities include: progressive obstructive pulmonary disease with bronchiectasis, frequent hospitalizations for lung disease, recurrent bronchitis, sinusitis, pancreatic insufficiency, malnutrition and male infertility. One of the possible complications in the prenatal period is Meconium ileus, which may be present in 15 to 20% of newborns with CF. The expected survival of affected patients is estimated at 40.7 years.

Being an autosomal recessive Mendelian disease, both parents carry the defect in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein located on the long arm of chromosome 7. This leads to a 25% risk of recurrence of CF in future pregnancies, therefore, it is essential that parents of affected children receive appropriate genetic counseling.