Clinical and genetic characteristics of children with type 1 Gaucher disease in Ukraine

Gaucher disease type 1 (GD1) is one of the most common lysosomal storage disorders. This disease is caused by a deficiency of the acid β-glucosidase enzyme, which is encoded by the GBA gene. Deficiency of this enzyme leads to the accumulation, in particular, of glucosylsphingosine (Lyso-GL-1) in cells of the monocyte line of macrophages. Aim - evaluate and analyze statistical data; establish the features of the clinical course and therapeutic management of GD1 in children. Materials and methods. We examined 27 children with GD1 who live in Ukraine. Clinical and laboratory data of the course of the disease, the presence of mutational status and the observation stage were taken into account: at the time of diagnosis and after 5 years of treatment. Results. Progressive anemia, thrombocytopenia and hepatosplenomegaly were found in the general group of patients. Skeletal disease led to pain in the bones and presence. bone crises. Gaucher disease type 1 shows significant genetic variability due to different mutations in the GBA gene, including N370S, L444P and the complex N370S/84G mutation. The type of mutations affects the level of Lyso-Gl-1, which determines the severity of clinical manifestations, in particular, found among our patients with the N370S/84GG mutation. Patients with GD1 and various mutations have a variable clinical course. A milder course of the disease was observed in patients with the N370S and L444P mutation, while the complex allelic combinations, N370S/84GG, lead to a more severe course of the disease. Enzyme replacement therapy (ERT) is the mainstay of treatment and has been shown to be highly effective in most patients with GD1, especially those with mild mutations, using imiglucerase. Conclusions. The high genetic and clinical heterogeneity of GD1 emphasizes the importance of a personalized approach to treatment that takes into account the individual genetic characteristics of each patient. Integrating genetic analysis with clinical assessment is key to optimizing treatment and improving patient outcomes. These findings highlight the importance of understanding the genetic basis of GD1 to improve patient diagnosis, prognosis, and treatment. The study was conducted according to the principles of the Helsinki Declaration. Informed consent was obtained from the patients for the study. The author declares no conflict of interest.