ISSN Print 2500–1094
ISSN Online 2542–1204
Bulletin of RSMU
BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)
ORIGINAL RESEARCH
Orphan diseases in the republic of North Ossetia–Alania: structure, population genetic features, issues and prospects
About authors
1 Bochkov Research Center for Medical Genetics, Moscow, Russia
2 North-Ossetian State Medical Academy, Vladikavkaz, Russia
3 Republican Children’s Clinical Hospital, Vladikavkaz, Russia
4 Semashko National Research Institute of Public Health, Moscow, Russia
Correspondence should be addressed: Rena A. Zinchenko
Moskvorechye, 1, 115522, Moscow, Russia; ur.liam@oknehcnizaner
About paper
Funding: the study was supported as part of the State Assignment of the Research Centre for Medical Genetics and the Ministry of Health of the Republic of North Ossetia–Alania.
Author contribution: Zinchenko RA, Tebieva IS, Gabisova YuV, Khokhova AV — patient examination, making the diagnosis, obtaining the informed consent, and biomaterial collection; Shukan EYu — acquisition of data on the number of patients; Zinchenko RA, Tebieva IS, Kutsev SI — study planning, statistical analysis, manuscript writing; Marakhonov AV — analysis of molecular genetic tests; Tebieva IS, Marakhonov AV, Zinchenko RA — editing; Zinchenko RA, Kutsev SI — general management, editing.
Compliance with ethical standards: the study was approved by the Ethics Committee of the Research Centre for Medical Genetics (protocol No. 5 dated 20 December 2010), it was compliant with the Good Clinical Practice and evidence-based medicine standards. All patients submitted the informed consent to participation in the study.
Received: 2024-05-08
Accepted: 2024-06-02
Published online: 2024-06-26
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Currently, there are more than 8000–10000 rare disease (RDs), among which 75–80% are hereditary. In the Russian Federation (RF), patients are provided medical care in accordance with two lists: 17 chronic progressive and life-threatening diseases (RLTDs) and 14 high-cost nosologies (HCNs). The study was aimed to assess the range, prevalence, and genetic epidemiological characteristics of the RDs from the lists of RLTDs and HCNs in the Republic of North Ossetia–Alania and RF in general. We determined the number of patients from the RLTD (a total of 18,744 people in the RF, among them 8713 children; 129 and 42 people, respectively, in the Republic of North Ossetia–Alania) and HCN (28727 people/13454 children in the RF; 554 and 64 in the Republic of North Ossetia–Alania) lists and calculated the prevalence per 100,000 population. The global prevalence of RDs was estimated using the Orphanet database. The average prevalence of RLTDs in the whole population of the RF was 11.51 cases and that among children was 25.08. Similar data were obtained for the Republic of North Ossetia–Alania (19.38 and 29.44, respectively). It was found that idiopathic thrombocytopenic purpura, disorder of the complement system, maple syrup urine disease, porphyria were more common in the Republic of North Ossetia–Alania than in the RF in general, while galactosemia was less common. The analysis of disorders from the RLTD list has shown lower prevalence of hemophilia and pituitary dwarfism in the Republic of North Ossetia–Alania compared to the RF and Orphanet, along with the higher prevalence of type VI mucopolysaccharidosis, hemolytic uremic syndrome, and systemic juvenile rheumatoid arthritis. In the Republic of North Ossetia–Alania, the features of the range of genetic variation in the genes РАН (phenylketonuria) and CFTR (cystic fibrosis) have been identified. Thus, assessment of the RD prevalence in the regions is important and essential for raising awareness of medical personnel, as well as for expansion and improvement of medical care provision to patients with RLTDs and HCNs.
Keywords: prevalence, rare (orphan) diseases, chronic progressive and life-threatening diseases, high-cost nosologies, Republic of North Ossetia–Alania