FIQUI PERÚ
You breathe without thinking, I only think about breathing
Who are we?
“FIQUI Peru is an association of parents and friends of patients with cystic fibrosis, born from the need to guide parents in managing the disease and to provide improvements in its treatment. Cystic fibrosis is a rare disease, little known in Peru, and due to a lack of timely diagnosis and appropriate treatment, it claims lives at a very young age.”
The children withof salty sweat
Fifteenth-century writings have been found that read, “Woe to the child whose forehead is kissed and whose sweat is salty; he is bewitched and will soon die.” And they weren’t far from the truth. In the mid-20th century, this disease, called mucoviscidosis or now known as cystic fibrosis, was described. It was also discovered that the salt content in the sweat of these patients is five times higher than normal and that life expectancy barely reached five years. There is no cure, but in recent decades there have been significant advances in the management of this complex disease, which have significantly improved its prognosis.
Cystic fibrosis is a genetic disease, caused by a mutation in a gene on chromosome 7. This gene produces a protein that maintains the balance of water, chloride, and sodium on the surface of some glands, mainly those found in the bronchi, pancreas, sweat glands, and reproductive organs.
Mutations in this gene lead to the production of a defective protein, thus disrupting the balance of water and salt. This results in the production of thick, sticky bronchial secretions in the lungs, which are difficult to expectorate and predispose individuals to infections by various bacteria. Some of these, such as Pseudomonas aeruginosa, are very difficult to eradicate. In the digestive system, there is a deficiency of pancreatic enzymes (necessary for nutrient absorption), often causing malnutrition due to the loss of fats and proteins in the stool.
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In young children, the first clinical manifestation is usually poor weight gain; respiratory symptoms appear later, with a cough producing thick, yellowish sputum being the most frequent. Due to these clinical characteristics, it can be confused with other more common illnesses such as asthma, allergic bronchitis, or tuberculosis.
The inheritance pattern is recessive, meaning that for a child to be born with cystic fibrosis, both parents must carry one of the mutations for the disease and pass it on to their child. This means that with each pregnancy, there is a 25% chance of having a child with cystic fibrosis.
It is more common in white children of European descent, where it can be as frequent as 1 in 5,000 live births; however, it has been described in all races. In Peru, we do not know the incidence, but given the ethnic characteristics of our population, it could be around 1 in 9,000 live births. Since this is a rare disease in our population, a significant number of cases (around 90%) go undiagnosed and therefore result in premature death due to lack of appropriate treatment.
The diagnosis is traditionally made based on clinical suspicion and a newborn screening test with an IRR greater than 50, and then confirmed with a sweat test. Genetic testing is performed to reconfirm the diagnosis and determine which mutations affect each patient. Currently, there are no laboratories in Peru that perform these tests, so they must be carried out in other countries such as Uruguay, Argentina, Brazil, etc. In Peru, there is a Law from the Congress of the Republic, No. 29885, which declares the creation of a universal newborn screening program, including testing for cystic fibrosis, to be of national interest.