Neurofibromatosis type 1 in Western Siberia, overall prevalence, assessment of the prevalence of plexiform neurofibromas in the region
- Authors: Maksimova Y.V.1,2, Chupyrko N.A2, Garny V.E2, Vasilyeva M.A1,2, Maksimov V.N2,3
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Affiliations:
- City Clinical Hospital № 1
- Novosibirsk State Medical University
- Research Institute of Internal and Preventive Medicine - Branch of the Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences
- Issue: Vol 29, No 8 (2022)
- Pages: 76-80
- Section: Articles
- URL: https://journals.eco-vector.com/2073-4034/article/view/321047
- DOI: https://doi.org/10.18565/pharmateca.2022.8.76-80
- ID: 321047
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Abstract
Background. The development of modern biomedical technologies has led to an increase in the number of effective drugs, including for the treatment of orphan diseases. One such disease is neurofibromatosis type I (NF1). Doctors must know well the clinical picture at the initial stages of the disease in order to prescribe timely treatment for patients. All this together makes the evalyation of the prevalence and characteristics of the course of NF1 in the population of residents of the Novosibirsk region an urgent problem. Objective. Evaluation of the prevalence of the NF1, the features of clinical manifestations of the disease, estimation of the number of patients with NF1 with plexiform neurofibromas (PN) in the population of the Novosibirsk region, including Novosibirsk. Methods. Retrospective analysis of proband medical records with an confirmed clinical diagnosis of NF1at the Clinical Department of the Medical Genetic Division of the City Clinical Hospital № 1 for 11 years (from 2010 to 2021) was performed. Diagnosis was based on the diagnostic criteria recommended by the NF1 International Expert Committee. Results. Over the past 11 years, 124 patients with NF1 have been followed-up at the Medical Genetic Division. Thus, the prevalence of NF1 in Novosibirsk and the Novosibirsk region was 1:13589. The relatively low prevalence of the disease and its slow progression can be explained by the features of the climate, which determine the low insolation load. In 28% of patients, changes in the musculoskeletal system (scoliosis, kyphosis, flat feet) were noted. Optic nerve glioma was found in 4.8% of cases, Lisch nodules - in 1.6% of patients. 39.5% of patients with NF1 had PN. Conclusion. The prevalence of NF1 in Novosibirsk and the Novosibirsk region is 1:13589. Among patients with NF1, almost 40% have PN. The proportion of children with PN among all patients with NF1 is 10.5%.
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About the authors
Yulia V. Maksimova
City Clinical Hospital № 1; Novosibirsk State Medical University
Email: 164706@mail.ru
Dr. Sci. (Med.), Professor, Head of the Department of Medical Genetics and Biology Novosibirsk, Russia; Novosibirsk, Russia
N. A Chupyrko
Novosibirsk State Medical UniversityNovosibirsk, Russia
V. E Garny
Novosibirsk State Medical UniversityNovosibirsk, Russia
M. A Vasilyeva
City Clinical Hospital № 1; Novosibirsk State Medical UniversityNovosibirsk, Russia; Novosibirsk, Russia
V. N Maksimov
Novosibirsk State Medical University; Research Institute of Internal and Preventive Medicine - Branch of the Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of SciencesNovosibirsk, Russia; Novosibirsk, Russia
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