Genetic and progressive
– It’s a genetic disease. The disease is caused by a mutation in the PHEX gene. It is characterized by congenital disorders of phosphate-calcium economy, leading to a negative balance of phosphorus in the body, and this results in reduced bone mineralization-says pediatrician, endocrinologist, dr hab. n. med. Monika Obara-MoszyńskAZ Medical University in Poznań. – He is the most common figure in the group of congenital hypophosfatemic currents, constituting 80 percent. Occurs with a frequency of 1/20 thousand. Most often it is recognized in the first two years of a child’s life.
A large discovery in medicine
Until now, XLH treatment was about giving the patient a phosphate mix, which was to prevent the loss of this element from the body. However, because the phosphorus is quickly excreted, it had to be done several times a day, and it was very burdensome.
The situation changed in 2023, when a breakthrough drug entered the program, a monoclonal antibody, intended for the therapy of children from XLH. We currently have 70 children treated in Poland.
– This is a breakthrough, which is a great discovery in medicine – says dr hab. n. med. Monika Obara-Moszyńska. – This is targeted treatment, it is used subcutaneously, every two weeks. Increases the concentration of blood serum phosphate, improves bone system, bone mineralization, and improves motor efficiency.
Extension research is underway
– For now, only children can use the drug free of charge, but maybe this will change – we postulate that it is in the drug program and for adults with severe symptoms of the disease. The most important thing is that doctors recognize this disease as early as possible, differentiating it with other rickets. Because then you can prevent the development of the disease and significant bone deformation – adds dr hab. n. med. Monika Obara-Moszyńska.
Thousands of rare diseases
Rare diseases occur at a frequency of not more than 5 out of 10,000 people. Currently, over 7,000 different rare diseases affecting about 300 million people around the world are known.
On February 28, we celebrate the World Day of Rare Diseaseswhich increases public awareness about these diseases.
