Tomorrow, Wednesday, April 23, the National Cystic Fibrosis Day is celebrated in Spain, and various associations have taken the opportunity to demand from the health authorities the creation of functional units in all the reference hospitals of the country and the reinforcement of those that already exist with new tools to improve the neonatal diagnosis of the disease.
Cystic fibrosis is a hereditary disease that requires defective genes from the father and mother to develop; In that case, the risk of transmission of the disease to the fetus is 25%. In Spain there are 1.5 to 2 million people carrying the cystic fibrosis gene.
Therefore, it is very important, as we have also indicated in these pages, to carry out an early diagnosis by systematizing a neonatal test.
This diagnostic test for newborns is already carried out in the communities from Catalonia, Castilla-León, Baleares, Galicia, Extremadura, Madrid, Aragón and Murcia, with very positive results of early diagnosis. But it does not seem sufficient for the treatment to be optimal from the first weeks and the patient's quality of life is substantially improved.
Fortunately, pediatric pulmonologists and associations of parents of patients expect that neonatal screening for cystic fibrosis will soon be carried out in the rest of Spain. It is a serious health problem that can develop over time in many cases insurmountable respiratory failure.
For the early diagnostic test, the sample obtained on the third day of the baby's life is used to detect two other diseases (phenylketonuria and congenital hypothyroidism) and is based on the determination of the substance 'Immunoreactive trypsin' in the blood.
If the data indicate the possibility of the baby suffering from the disease, the diagnosis is confirmed or ruled out by performing a genetic study and a sweat analysis, which will detect if it is a sweat excessively rich in chlorine and sodium, typical of fibrosis sufferers .
From there, the treatment will be more effective as soon as it starts, and although the disease currently has no cure, a better quality of life for the patient will be achieved. That's why it's so important that generalization of the early tests, and hopefully they will be generalized in all hospitals.
