Cystic fibrosis is a genetic disease caused by a mutation in a cell membrane receptor that prevents proper chloride transport. This defect causes the production of thick and viscous secretions in various organs such as the lungs, pancreas, liver, intestine and reproductive system, affecting their functioning. Dr. Carlos José Mendoza Fox, paediatric pulmonologist at our clinic, provides us with valuable information about this genetic disease that generates thick secretions and affects various organs.

What are the most common symptoms?

In newborns, there may be intestinal obstruction due to thick stools. Common respiratory symptoms include productive cough, bronchospasm, recurrent pneumonia and chronic sinusitis. Other symptoms include poor weight gain, diarrhoea, anaemia, dehydration, dermatitis and hair loss.

How is cystic fibrosis diagnosed?

Diagnosis is made by a series of tests, including sweat test to measure electrolytes, genetic testing for mutations and nasal testing of ionic potentials.

In addition, neonatal screening (immunoreactive trypsinogen test) is performed.

What does the treatment involve?

• There is currently no cure for this pathology; however, treatment has come a long way, significantly improving the quality of life and life expectancy of those who suffer from it.
• Controlling the disease is complex and requires the participation of several specialties. The focus is on combating respiratory infections, which are frequent, and improving nutritional status, which is also seriously affected. Antibiotics, anti-inflammatory drugs, pancreatic enzymes, respiratory physiotherapy, bronchodilators and drugs to facilitate the mobilization of respiratory secretions are used.
• There is increasingly effective medication aimed at correcting the function of the transmembrane receptor affected by the genetic defect. Recently, a triple combination of such drugs has begun to be used which is changing the lives of these patients, even allowing them to stop using the medication that was usually necessary.

Dr. Carlos José Mendoza Fox
Pediatric pulmonologist at Clínica Ricardo Palma