2023-09-24 04:09:00
This September 24, the Vaincre la Cystic Fibrosis association is organizing numerous Virades of Hope throughout France, including one in Perpignan. These are races for the benefit of the association and research into cystic fibrosis. Doctor Raphaël Chiron, pediatric pulmonologist responsible for the cystic fibrosis center (CRCM) in Montpellier who follows patients from the former Languedoc-Roussillon, brings his expertise on this genetic disease which affects nearly 7,500 people in France.
What are the symptoms of cystic fibrosis?
The symptoms are multiple and varied and depend on the expression of the abnormal CFTR gene. This abnormal CFTR gene leads to the production of a more or less functional protein. This protein behaves like a channel which allows the permanent balance of secretions between cells and organs. For example, it allows the hydration of the bronchi so that the mucus is sufficiently fluid and ensures normal bronchial cleaning. In the case of cystic fibrosis, it is sticky and causes inflammation and infection of the bronchi.
The symptoms will therefore vary and will depend on the accumulation of abnormally viscous secretions (viscous mucus having also given the name cystic fibrosis) in this or that organ. In most patients with cystic fibrosis, there is congestion in the bronchi leading to infection, so they cough and become congested all the time. They then need antibiotics in infusion or aerosol every day, physiotherapy and fluidizers and everything accelerates over the years. The congestion may be in hidden organs like the pancreas and prevent the secretion of enzymes. Children therefore have chronic diarrhea, they no longer absorb fats and lose weight, so daily treatment is required to replace the enzymes.
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Likewise, they can develop diabetes linked to the destruction of the pancreas. Many other symptoms can be described but this is the main thing with daily care to avoid decline in respiratory function and the consequences of malnutrition.
How can it be detected?
In France, we do screening at birth in maternity wards using the Guthrie test (a blood test from the heel) which also detects other congenital diseases. If this test is positive, the children are called with their parents to the CRCM to take a sweat test. It is this test which confirms or not the diagnosis by measuring the chlorine in this sweat. The genetic diagnosis will be confirmed by highlighting mutations in the CFTR gene.
The whole challenge of immediate treatment is to clearly specify where cystic fibrosis is expressed and what care will be necessary.
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How many people have cystic fibrosis in France?
Patients’ clinical data are listed with their consent in a national register called Mucoreregistre and coordinated by the patients’ association Vaincre la Mucoviscidose.
At the Montpellier cystic fibrosis center, 250 patients are monitored. In France, there are around 7,500 patients with cystic fibrosis.
Kaftrio is a medicine, it does not cure the disease
Some patients are now taking Kaftrio. Can you present this treatment and how it works on the symptoms of cystic fibrosis?
Kaftrio is a medication resulting from very recent research and which is taken in tablet form every day. It is a drug comprising three molecules which restore the function of the CFTR protein which is not or poorly produced due to the abnormal CFTR gene.
By partially or completely restoring the function of the protein, the mucous membranes in the organs regain normal secretion function. Phlegm no longer accumulates, for example. The mucus is no longer sticky in the bronchi which no longer become congested, no longer become infected and are therefore not destroyed. The bronchi can return to normal for some. In patients responding to treatment, antibiotics, aerosols, daily drainage and hospitalizations become more rarely indicated.
The Kaftrio shows a very clear gain in terms of pulmonary function, nutritional status and many other parameters, particularly metabolic ones; patients regain shape and energy.
However, it is a medication that must be taken every day, it does not cure the disease and the clinical response is uneven. Side effects are relatively rare but can lead to treatment discontinuation for some. It should be noted that a certain number of patients do not respond to this treatment or are not eligible, particularly due to rare mutations in their disease.
There are still patients who are doing poorly and who have no effective treatment
Where is research currently on cystic fibrosis?
Research is of course very focused on improving these new modulators to reduce side effects and improve daily intake. Other modulators are being evaluated. And then there are other ineligible patients for whom the strategies are much more complex, including gene therapy. This is phase 1 research, that is to say still very early but full of hope. It is for these patients that research must be a priority.
Although we are improving the prognosis and quality of life of patients with cystic fibrosis every day, there are still patients who are doing poorly and who have no effective treatment. We must maintain energy and support from our ministerial authorities, industry and the community to achieve this. This care is quite exemplary on a medical but also societal level. We must salute the patients, the patients’ association and in particular Vaincre la Cystic Fibrosis without whom the doctors and researchers would not have been able to achieve such objectives and this must inspire us for other models of diseases and their management of our country.
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