Cystic fibrosis in children

Cystic fibrosis is one of the most common hereditary diseases in our society

Fibrosis quística pediátrica. Instituto Bernabeu Biotech.

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Cystic fibrosis (CF) is a recessive hereditary disease that affects the entire organism. Its most common symptom is difficulty breathing due to chronic infections in the lungs that can prove resistant to treatment with antibiotics and other pharmaceutical drugs.

What is cystic fibrosis?

 Cystic fibrosis is an autosomal recessive disorder that becomes apparent during early infancy and that affects multiple body organs such as the lungs, intestines, pancreas, liver and so on. Thick mucus production takes place in these organs and this leads to obstructions and infections.

What causes cystic fibrosis?

Cystic fibrosis is caused by a mutation in the CTFR gene that leads to a deficiency in the protein that is responsible for regulating the flow of chloride through cell membranes. This deficiency affects sweat, gastric juice and mucus production, leading to a build-up of abnormal and thick secretions.

How common is cystic fibrosis?

Cystic fibrosis affects one in every 2,500 children. It is one of the most common genetic diseases in the Caucasian race and approximately one in every 20 to 25 people (4 to 5% of the population) is a symptom-free carrier of one mutation or another. Each region has its most prevalent mutations. The most common amongst the Spanish population are the deltaF508 mutation (in 50% of carriers or up to 80% in the north of the peninsula) and the G542X mutation (most prevalent along the Mediterranean).

How is cystic fibrosis diagnosed?

Cystic fibrosis can be detected at molecular level using a blood sample to obtain the individual’s DNA. Molecular biology techniques are used to detect the most prevalent mutations amongst the general population and a molecular level diagnosis of the disease is obtained. The technique that we use in IB Biotech allows us to detect up to 50 mutations, as well as the poly-T variants.

What is the purpose of performing a cystic fibrosis analysis?

The purpose of performing a molecular study of cystic fibrosis is to confirm diagnosis in patients who would appear to have the disease. By doing so, the patient can be treated as quickly as possible and the family can be given appropriate genetic guidance (preconception counselling for future pregnancies and an analysis of family members in order to get to know what their status is in terms of carriers and taking any necessary measures).

When is performing a cystic fibrosis analysis advisable?

It is advised in children who have symptoms of cystic fibrosis so that the diagnosis can be confirmed. It is also advised in children who have a close family member (father, mother or sibling) who is a carrier of mutations in the gene that causes the disease.