Identification of patients with orfan pathology as a result of routine creatine phosphokinase level analysis. The experience of the Krasnoyarsk Territory

Abstract

Background. Duchenne muscular dystrophy (DMD) is a severe genetic disease that usually affects boys and it is characterized by a gradual loss of muscle strength up to respiratory arrest from the childhood. Currently, there are several types of successful pathogenic therapies for the disease, but it is most effective before the age of 5 years. Thereby, the problem of verifying the diagnosis before the treatment fails to work (when treatment can still make the patient’s life easier) becomes urgent. In the Russian Federation only about 1,500 boys are diagnosed with DMD, when the calculated value is 3,500.Aim. To identify all cases of DMD among patients in the neurological departments of hospitals in the Krasnoyarsk region by measuring the level of creatine phosphokinase.Materials and methods. This study was estimated by neurologists in the Krasnoyarsk Interdistrict Children’s Clinical Hospital No. 1 and the Krasnoyarsk Regional Clinical Center for Maternal and Child Health. When elevated levels of creatine phosphokinase were detected in children, genetic analysis was performed to verify DMD.Results and conclusion. Innovate experience of Krasnoyarsk region made it possible to identify all patients with DMD in the neurological departments of the Krasnoyarsk Interdistrict Children’s Clinical Hospital No. 1 and the Krasnoyarsk Regional Clinical Center for Maternal and Child Health using cheap creatine phosphokinase level analysis. The number of patients diagnosed with DMD is now ~4 cases per year. As a result, there is a correspondence between the number of real patients and the epidemiological estimate quantity for the Krasnoyarsk region.