| ISSN |
2219-2808 (online) |
| Open Access |
This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/ |
| Copyright |
© The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved. |
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Pediatrics |
| Manuscript Type |
Retrospective Cohort Study |
| Article Title |
Clinical and genetic characteristics of mucopolysaccharidosis type VI according to the Russian registry
|
| Manuscript Source |
Invited Manuscript |
| All Author List |
Anastasia O Vechkasova, Ekaterina Yu Zakharova, Natalia V Buchinskaya, Nato D Vashakmadze, Leyla S Namazova-Baranova, Dmitry O Ivanov, Sergei I Kutsev and Mikhail M Kostik |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Mikhail M Kostik, Professor, Hospital Pediatry, Saint-Petersburg State Pediatric Medical University, Lytovskaya 2, Saint Petersburg 194100, Sankt-Peterburg, Russia. kost-mikhail@yandex.ru |
| Key Words |
Mucopolysaccharidosis type VI; ARSB; Enzyme replacement therapy; Genotype-phenotype correlation; Register; Russian Federation |
| Core Tip |
The prevalence of mucopolysaccharidosis type VI (MPS VI) in Russia is close to that in the United States and Japan. The main clinical symptoms included the Hurler phenotype, heart involvement, delayed linear growth, otolaryngological symptoms, a short neck, hepatomegaly, and inguinal hernias. All patients exhibited orthopedic manifestations, including chest deformity, spine stiffness, and joint stiffness. The pathogenic variant c.454C>T in the ARSB gene is the most common in patients with MPS VI in Russia, followed by pathogenic variant c.194C>T (p.Ser65Phe). There was no correlation between the onset age of the first symptoms, the severity of clinical manifestations and enzyme activity, and nucleotide variants in the ARSB gene. |
| Publish Date |
2025-10-31 15:02 |
| Citation |
<p>Vechkasova AO, Zakharova EY, Buchinskaya NV, Vashakmadze ND, Namazova-Baranova LS, Ivanov DO, Kutsev SI, Kostik MM. Clinical and genetic characteristics of mucopolysaccharidosis type VI according to the Russian registry. <i>World J Clin Pediatr</i> 2025; 14(4): 110003</p> |
| URL |
https://www.wjgnet.com/2219-2808/full/v14/i4/110003.htm |
| DOI |
https://dx.doi.org/10.5409/wjcp.v14.i4.110003 |
