The jubilee 10th issue of the Cystic Fibrosis Register of the Russian Federation has been released
We inform you that the jubilee 10th issue of the Cystic Fibrosis Register of the Russian Federation has been released.
Congratulations to all colleagues participating in the register and thank you for your work!
Cystic fibrosis or mucoviscidosis, is one of the most common hereditary diseases that dramatically reduces the length and quality of life of patients without adequate treatment. More recently, patients with cystic fibrosis died in early childhood or even in the first year of life from pneumonia and malabsorption-related malnutrition. Currently, the disease has moved from a "fatal" to the category of chronic diseases.
The first edition of the Register for 2011, summarized data on 1015 patients from 17 regions of the Russian Federation only, where 3722 patients from 81 regions of our country were included in the jubilee issue of the Register for 2020. The efficiency of genetic testing has increased, leading to an increase in the total frequency of identified alleles from 80% to 89.9% in 2020, due to the optimization of genetic research, including sequencing.
230 pathogenic variants of the CFTR gene were identified in 2020, 58 of them are found to be unique since they are not presented in the international CFTR databases.
The jubilee issue of the Cystic Fibrosis Register is intended to serve as a framework for improving the delivery of care to patients with Cystic Fibrosis. It reflects positive trends in patient health status and care.
Organizing committee of the register.