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©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
Clinical and genetic characteristics of mucopolysaccharidosis type VI according to the Russian registry
Anastasia O Vechkasova, Ekaterina Yu Zakharova, Natalia V Buchinskaya, Nato D Vashakmadze, Leyla S Namazova-Baranova, Dmitry O Ivanov, Sergei I Kutsev, Mikhail M Kostik
Anastasia O Vechkasova, Natalia V Buchinskaya, Clinical Genetics, Saint-Petersburg State Medical Diagnostic Center (Genetic Medical Center), Saint Petersburg 194044, Russia
Ekaterina Yu Zakharova, Sergei I Kutsev, Molecular and Genetic Diagnostics, Federal State Budgetary Scientific Institution, Research Center for Medical Genetics, Moscow 115478, Moskva, Russia
Natalia V Buchinskaya, Mikhail M Kostik, Hospital Pediatry, Saint-Petersburg State Pediatric Medical University, Saint Petersburg 194100, Russia
Nato D Vashakmadze, Leyla S Namazova-Baranova, Institution of the Maternity and Childhood, Pirogov Russian National Research Medical University, Moscow 117513, Moskva, Russia
Nato D Vashakmadze, Leyla S Namazova-Baranova, Department of the Orphan Diseases, Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery, Moscow 119435, Moskva, Russia
Dmitry O Ivanov, Department of Neonatology, Saint Petersburg State Pediatric Medical University, Saint Petersburg 194100, Russia
Co-first authors: Anastasia O Vechkasova and Ekaterina Yu Zakharova.
Author contributions: Buchinskaya NV, Zakharova EY, Kutsev SI, Kostik MM concept of the article; Vechkasova AO, Zakharova EY, Buchinskaya NV, Kostik MM design of the study; Vashakmadze ND, Namazova-Baranova LS, Zakharova EY, Kutsev SI, Kostik MM supervision; Vashakmadze ND, Zakharova EY, Kutsev SI resources; Vechkasova AO, Buchinskaya NV materials; Buchinskaya NV, Vechkasova AO data collection and/or processing; Buchinskaya NV, Vechkasova AO, Kostik MM analysis and/or interpretation; Buchinskaya NV, Vechkasova AO literature search; Buchinskaya NV, Vechkasova AO, Kostik MM writing; Vashakmadze ND, Namazova-Baranova LS, Ivanov DO, Zakharova EY, Kutsev SI, Kostik MM critical review. All authors were involved in drafting or revising the article critically for important intellectual content, and all authors approved the final version to be published. Vechkasova AO and Zakharova EY contributed equally to this work as co-first authors.
Institutional review board statement: The study was approved by the Ethics Committee of Saint-Petersburg State Pediatric Medical University (protocol #1 from 19.01.2009).
Informed consent statement: All study participants or their legal guardians provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors declare that the research was conducted without any commercial or financial relationships that could be construed as a potential conflict of interest.
STROBE statement: The authors have read the STROBE Statement-checklist of items, and the manuscript was prepared and revised according to the STROBE Statement-checklist of items.
Data sharing statement: The original contributions presented in the study are included in the article/supplementary material; further inquiries can be directed to the corresponding author.
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/ Corresponding author: Mikhail M Kostik, Professor, Hospital Pediatry, Saint-Petersburg State Pediatric Medical University, Lytovskaya 2, Saint Petersburg 194100, Russia.
kost-mikhail@yandex.ru
Received: May 29, 2025
Revised: June 15, 2025
Accepted: September 4, 2025
Published online: December 9, 2025
Processing time: 157 Days and 7.5 Hours
BACKGROUND
Mucopolysaccharidosis type VI (MPS VI) is a chronic, progressive, inherited disease with multiorgan involvement and a restricted life expectancy.
AIM
To investigate the epidemiological, clinical, and genetic characteristics of patients with mucopolysaccharidosis type 6 and their outcomes using the Russian Federation's national registry, as per the Russian registry, and compare them with previously published data.
METHODS
In a retrospective cohort study, clinical, laboratory data, molecular genetic analysis results, and enzyme replacement therapy (ERT) data were extracted and analyzed from the Russian MPS VI registry for 53 patients, comprising 26 males (49.1%) and 27 females (50.9%).
RESULTS
The median age of first symptoms was 2 years, ranging from the first months of life to 20 years. A positive family history of MPS VI was reported in 19/53 (35.8%) patients, a negative family history in 24 (45.3%), and missing information in 10 (18.9%). The main features of the disease were hepatomegaly (n = 23; 60.5%), splenomegaly (n = 15, 39.5%), involvement of otolaryngological organs (n = 24/33; 72.7%), umbilical and inguinal hernia (n = 19/36; 52.8%), heart involvement (n = 26/32; 81.3%) with valve involvement (n = 25/26; 96.2%) and linear growth delay (n = 30/39, 76.9%). Two patients (3.8%) died. The most common variants identified in the ARSB gene were c.454C>T and c.194C>T. At the time of data collection, ERT had ever received 48/53 (90.5%) patients.
CONCLUSION
No correlation was observed between the age of onset of the first symptoms, the severity of clinical manifestations, enzyme activity, or nucleotide variants in the ARSB gene.
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.
