Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation
Objective: The study aimed to evaluate the epidemiological, clinical, and molecular data of mucopolysaccharidosis type II (MPS II) patients and their outcomes using the national registry of patients in the Russian Federation (RF). Materials and Methods: In the retrospective cohort study, the auth...
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AVES Yayincilik
2025-01-01
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| Series: | Turkish Archives of Pediatrics |
| Online Access: | https://www.turkarchpediatr.org/en/epidemiology-of-mucopolysaccharidosis-type-ii-according-to-the-register-of-the-russian-federation-131725 |
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| author | Natalia V. Buchinskaia Ekaterina Yu. Zakharova Yulia S. Koshevaya Anastasia O. Vechkasova Rostislav K. Skitchenko Aleksandr M. Nikonov Vera I. Kurilova Yulia V. Maximova Khasyanya F. Aksyanova Elena G. Bakulina Nina I. Kononenko Elena V. Osipova Mikhail M. Kostik Sergei I. Kutsev |
| author_facet | Natalia V. Buchinskaia Ekaterina Yu. Zakharova Yulia S. Koshevaya Anastasia O. Vechkasova Rostislav K. Skitchenko Aleksandr M. Nikonov Vera I. Kurilova Yulia V. Maximova Khasyanya F. Aksyanova Elena G. Bakulina Nina I. Kononenko Elena V. Osipova Mikhail M. Kostik Sergei I. Kutsev |
| author_sort | Natalia V. Buchinskaia |
| collection | DOAJ |
| description | Objective: The study aimed to evaluate the epidemiological, clinical, and molecular data of mucopolysaccharidosis type II (MPS II) patients and their outcomes using the national registry of patients in the Russian Federation (RF).
Materials and Methods: In the retrospective cohort study, the authors included data from the Russian national registry of MPS II.
Results: The prevalence of MPS II in RF is 0.62 per 100 000 live births or 0.09 per 100 000 population with the majority of patients in the Central (n = 36) and the Volga Federal District (n = 35). Males were 157 (99.4%), positive MPS II family history had 47 (29.7%) patients. The median age of the first symptoms was 1.8 (0.8-2.6) years, ranging from 0.1 to 19 years, and the age of diagnosis was 4.0 (2.5; 5.9) years, ranging from 0.1 to 38.9 years. A genetic study was available for the analysis in 116 (73.4%) patients. Single nucleotide variants in the IDS gene were found in 98/116 (84.5%) patients, and 18 further patients (15.5%) had gross rearrangements. About 59/98 (60.2%) patients had missense, 15/98 (15.3%) had frame-shift variants, 12/98 (12.2%) had splice site, and 11/98 (11.2%) had nonsense variants. One (1.0%) patient out of 98 patients had a small deletion. Pathogenic, likely pathogenic variants, and variants with uncertain significance were found in 54 (55.1%), 36 (36.7%), and 8 (8.2%) patients, respectively. About 138 (87.3%) patients received enzyme replacement therapy.
Conclusion: The prevalence of MPS II in the RF is higher than that in some European countries and closer to the Asian population. The registry is a convenient tool for disease epidemiology and monitoring. |
| format | Article |
| id | doaj-art-323176eeaad941d98ac5b5706b5eb959 |
| institution | Kabale University |
| issn | 2757-6256 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | AVES Yayincilik |
| record_format | Article |
| series | Turkish Archives of Pediatrics |
| spelling | doaj-art-323176eeaad941d98ac5b5706b5eb9592025-01-13T08:09:41ZengAVES YayincilikTurkish Archives of Pediatrics2757-62562025-01-0160110.5152/TurkArchPediatr.2025.24158Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian FederationNatalia V. Buchinskaia0Ekaterina Yu. Zakharova1Yulia S. Koshevaya2Anastasia O. Vechkasova3Rostislav K. Skitchenko4Aleksandr M. Nikonov5Vera I. Kurilova6Yulia V. Maximova7Khasyanya F. Aksyanova8 Elena G. Bakulina9 Nina I. Kononenko10Elena V. Osipova11Mikhail M. Kostik12Sergei I. Kutsev13Saint-Petersburg State Pediatric Medical University, Ministry of Healthcare of the Russian Federation, Saint Petersburg, Russia ; Saint-Petersburg State Medical Diagnostic Center (Genetic Medical Center), Saint-Petersburg, Russian Federal State Budgetary Scientific Institution, Research Center for Medical Genetics, Moscow, RussiaSaint-Petersburg State Medical Diagnostic Center (Genetic Medical Center), Saint-Petersburg, Russian Saint-Petersburg State Medical Diagnostic Center (Genetic Medical Center), Saint-Petersburg, Russian Almazov National Medical Research Centre, Saint-Petersburg, RussiaKGBUZ Consulting and Diagnostic Center of the Altai Territory, Barnaul, RussiaState Budgetary Institution of Health of the Perm Region, Regional Children’s Clinical Hospital Perm, RussiaNovosibirsk State Medical University, Novosibirsk, RussiaNizhny Novgorod Regional Clinical Hospital, Nizhny Novgorod, RussiaStavropol Regional Clinical Consulting and Diagnostic Center, Stavropol, RussiaKursk Regional Clinical Hospital, Kursk, RussiaBudgetary Healthcare Institution of the Udmurt Republic, The First Republican Clinical Hospital of the Ministry of Health of the Udmurt Republic, Izhevsk, RussiaSaint-Petersburg State Pediatric Medical University, Ministry of Healthcare of the Russian Federation, Saint Petersburg, Russia ; Almazov National Medical Research Centre, Saint-Petersburg, RussiaFederal State Budgetary Scientific Institution, Research Center for Medical Genetics, Moscow, RussiaObjective: The study aimed to evaluate the epidemiological, clinical, and molecular data of mucopolysaccharidosis type II (MPS II) patients and their outcomes using the national registry of patients in the Russian Federation (RF). Materials and Methods: In the retrospective cohort study, the authors included data from the Russian national registry of MPS II. Results: The prevalence of MPS II in RF is 0.62 per 100 000 live births or 0.09 per 100 000 population with the majority of patients in the Central (n = 36) and the Volga Federal District (n = 35). Males were 157 (99.4%), positive MPS II family history had 47 (29.7%) patients. The median age of the first symptoms was 1.8 (0.8-2.6) years, ranging from 0.1 to 19 years, and the age of diagnosis was 4.0 (2.5; 5.9) years, ranging from 0.1 to 38.9 years. A genetic study was available for the analysis in 116 (73.4%) patients. Single nucleotide variants in the IDS gene were found in 98/116 (84.5%) patients, and 18 further patients (15.5%) had gross rearrangements. About 59/98 (60.2%) patients had missense, 15/98 (15.3%) had frame-shift variants, 12/98 (12.2%) had splice site, and 11/98 (11.2%) had nonsense variants. One (1.0%) patient out of 98 patients had a small deletion. Pathogenic, likely pathogenic variants, and variants with uncertain significance were found in 54 (55.1%), 36 (36.7%), and 8 (8.2%) patients, respectively. About 138 (87.3%) patients received enzyme replacement therapy. Conclusion: The prevalence of MPS II in the RF is higher than that in some European countries and closer to the Asian population. The registry is a convenient tool for disease epidemiology and monitoring.https://www.turkarchpediatr.org/en/epidemiology-of-mucopolysaccharidosis-type-ii-according-to-the-register-of-the-russian-federation-131725 |
| spellingShingle | Natalia V. Buchinskaia Ekaterina Yu. Zakharova Yulia S. Koshevaya Anastasia O. Vechkasova Rostislav K. Skitchenko Aleksandr M. Nikonov Vera I. Kurilova Yulia V. Maximova Khasyanya F. Aksyanova Elena G. Bakulina Nina I. Kononenko Elena V. Osipova Mikhail M. Kostik Sergei I. Kutsev Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation Turkish Archives of Pediatrics |
| title | Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation |
| title_full | Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation |
| title_fullStr | Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation |
| title_full_unstemmed | Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation |
| title_short | Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation |
| title_sort | epidemiology of mucopolysaccharidosis type ii according to the register of the russian federation |
| url | https://www.turkarchpediatr.org/en/epidemiology-of-mucopolysaccharidosis-type-ii-according-to-the-register-of-the-russian-federation-131725 |
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