Cystic fibrosis is one of the most common serious genetic diseases. According to estimates by the Spanish Cystic Fibrosis Association, 1 in 5,000 newborns in our country is affected by the disease, while 1 in 35 is a healthy carrier of the disease. It is a hereditary, chronic disease that affects different organs, most importantly the lungs.
In recent years, great progress has been made in the understanding and treatment of this disease, but despite this, it remains an incurable pathology. To learn more about this disease, we spoke to Dr. Manuel Morós, a pediatrician at the HLA Montpellier Clinic.
Q: What is cystic fibrosis?
Dr. Morós: It’s a congenital disease caused by mutations in a gene located on chromosome 7 that produces an abnormal protein called CFTR, or cystic fibrosis transmembrane regulator, that changes chloride ions and the flow of sodium ions through the membrane. epithelial cells, resulting in a decrease in the water content of secretions. The result is the production of thick mucus, blocking its transport channels, causing multi-system damage, inflammation and the organs in which it resides (respiratory system, intestines, pancreas, male reproductive system, hepatobiliary system and sweat glands).
Q: What are the effects of the disease? What are its main clinical manifestations?
Dr. Morós: Lung and pancreatic lesions are the most persistent and responsible for the evolution of the disease. The accumulation of viscous secretions in the airways and secondary infection gradually cause the destruction of lung tissue, with clinical manifestations of cough and recurrent bronchitis or bronchopneumonia. Destruction of the pancreas leads to maldigestion of fats and proteins, leading to symptoms such as chronic diarrhea, poor weight gain, anemia, hypoalbuminemia, and edema in the first year of life. In the neonatal period, meconium passage may be delayed due to reduced intraluminal flow or distal obstruction. Most adult men are infertile due to obstruction of the seminiferous ducts.
Q: What is the life expectancy of someone with cystic fibrosis?
Dr. Morós: Just three to forty years ago, the disease was poorly understood, treatments were few, and patients rarely survived past adolescence. Today, thanks to the multidisciplinary care of pulmonologists, physical therapists, nutritionists and gastroenterologists and the available treatments, it is no longer a pediatric disease and the expectations of those affected, the vast majority of whom Enjoying a good quality of life in adulthood. Live for many years.
Q: Is this a hereditary disease? Can it be prevented?
Dr. Morós: That’s right. The inheritance pattern is autosomal recessive, meaning that the mutated gene is not found on the sex chromosomes (X and Y), and two copies of the gene (one from each parent) are required for the disease to manifest in offspring. In a family where both mother and father are carriers, one in four children will inherit both genes that cause the disease and manifest it; 50% are unaffected carriers and 25% are neither carriers nor carriers. Affected. This possibility repeats itself with every pregnancy. Since most people don’t know if they are carriers of the disease because they don’t show any signs, it’s impossible to prevent it and the only thing that can be done is to provide for the future if they already have an affected child. Genetic advice for pregnancy and testing of others, immediate family members and their partners who are carriers.
Q: What is the impact of early diagnosis?
Dr. Morós: Current treatments have succeeded in significantly increasing the life expectancy of those affected, so early diagnosis makes it possible to establish a multidisciplinary treatment to reduce complications and ease the anxiety of the family due to the symptoms of the loss. Explain then and offer testing for other carriers in immediate family members and their partners (“cascade studies”).
Our most effective tool for early diagnosis is the commonly known “heel test,” which, in addition to detecting other inherited metabolic diseases such as hypothyroidism, also includes cystic fibrosis. Between the third and fifth days of life, the newborns’ heels are pricked and the blood is deposited on filter paper and sent to the laboratory. In cases of fibrosis, seek to increase trypsinogen immunoreactivity (TIR), a protein produced by the pancreas that is associated with cystic fibrosis. If it has a high value, do a genetic study and definitely confirm it with a sweat test, which measures the concentration of chlorine in sweat because, like other cells in the body of people affected by cystic fibrosis, sweating from the skin can also affect chlorine transfer across cell walls, so they secrete excess chlorine (in the form of sodium chloride) in sweat, giving the skin its characteristic salty taste. Values above 60 mmol/l have nearly 100% sensitivity and specificity for diagnosing cystic fibrosis.
Q: What are the main difficulties doctors face in diagnosing this disease?
Dr. Morós: In exceptional circumstances, technical or laboratory errors may occur that result in a false negative for a heel test. Lung damage begins at birth, so pediatricians must be on the lookout for suspicious symptoms. A sweat test should be requested if the infant has recurrent respiratory symptoms, chronic diarrhea, and poor weight and height growth.
Q: What treatments are currently available? Will these medications be available to patients?
Dr. Morós: The basic pillars of the treatment, which can be performed in specialized multisystem centers, are keeping the respiratory tract free of secretions and infections and ensuring that the pancreas absorbs fats and extra salts correctly, especially in hot weather. Dehydration. Respiratory physical therapy is also useful for exercises and postures that promote mucus drainage and, in many cases, are learned by the patient themselves. In the most extreme cases, with poor quality of life and incorrect prognosis, the solution is lung transplantation.
Q: What progress has been made in recent years in dealing with this disease?
Dr. Morós: In recent years, cutting-edge drugs have emerged that act by modulating the CTFR protein, increasing its production and improving its function. A few months after starting treatment, many people are already noticing positive effects, such as a reduction in coughing and phlegm production, the number of exacerbations, and improved nutritional status. Even patients with advanced, severe disease can improve enough to be removed from the transplant waiting list.
fountain: Heilan Home Hospital Group