- Cystic fibrosis is a rare, hereditary, congenital, chronic and incurable disease that affects the respiratory and digestive systems.
- In Mexico each year approximately 300 girls and boys are born with this disease.
- It is essential that health personnel at the first and second level of care have training on the diagnosis of this pathology.
The world of rare diseases is too extensive because there are between six thousand and eight thousand and new ones are constantly being described. In this sense, a condition that is little talked about although it has a strong impact on health is cystic fibrosiswhich is characterized by elevated levels of chloride in sweat.
Current panorama in Mexico
According to the Ministry of Health (SSa), a disease that frequently occurs in children. It is also hereditary, congenital, chronic and incurable, and affects the respiratory and digestive systems. Regarding our country, Every year there are 350 new cases.
For its part, the neonatal screen is the free test that works best to detect in a timely manner various diseases such as cystic fibrosis. This was announced by the head of the Cystic Fibrosis Clinic of the “Federico Gómez” Children’s Hospital of Mexico (HIMFG)José Luis Lezana Fernández.
He highlighted that public health institutions apply neonatal screening free of charge. The goal is to detect diseases that may not be apparent at birth but put quality of life at risk.
Damage to the quality of life of patients
About the cystic fibrosis, explained that the production of very thick and sticky mucus affects the lungs, pancreas and other organs. This prevents girls and boys from absorbing nutrients; They suffer from lung diseases such as pneumonia and cough, they have voluminous bowel movements and fetid stools with a large amount of fat.
He also explained that newborns with positive tests cystic fibrosis in the neonatal screen, or with symptoms, they undergo an examination by collecting sweat from an area of the skin to measure the amount of chloride.
The person in charge of the clinic for 20 years reported that the disease must be treated in the first three months of life. However, the lack of information or knowledge impacts late diagnosis.
Late detection is due, in some cases, to mothers and fathers not returning for the result of the neonatal screening examination. In others, because they request medical attention six months or years later, when the girl or boy has very advanced symptoms, and only palliative treatment can be prescribed.
An indication of the irreversible deterioration of lung function is the increasingly serious respiratory infections that shorten the life expectancy of patients.
The specialist reported that the Cystic Fibrosis Clinic serves 120 patients between one month and 18 years oldwho receive multidisciplinary treatment by specialists in pulmonology, nutrition, psychology, respiratory therapy and social work.
He pointed out that these patients are referred from general hospitals or mother-child centers with a positive result in the neonatal screen or due to symptoms.
He said that it is essential that health personnel at the first and second level of care have training on the diagnosis of this disease to avoid irreversible complications. Treatment must be personalized and is focused on achieving optimal nutritional status and improving lung function.
Also read:
World Cystic Fibrosis Day: Everything a doctor should know about this rare disease
Pulmonary Fibrosis: A respiratory disease that steals your breath
IMSS endorses novel treatment against idiopathic pulmonary fibrosis