Buchinskaia Natalia V, Zakharova Ekaterina Yu, Yulia S Koshevaya, Anastasia O Vechkasova, Skitchenko Rostislav K, Aleksandr M Nikonov, Kurilova Vera I, Maximova Yulia V, Aksyanova Khasyanya F, Bakulina Elena G, Kononenko Nina I, Osipova Elena V, M Kostik Mikhail, Kutsev Sergei I
Saint-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.
Turk Arch Pediatr. 2025 Jan 2;60(1):41-47. doi: 10.5152/TurkArchPediatr.2025.24158.
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.
本研究旨在利用俄罗斯联邦（RF）的国家患者登记系统，评估黏多糖贮积症II型（MPS II）患者的流行病学、临床和分子数据及其预后情况。材料与方法：在这项回顾性队列研究中，作者纳入了俄罗斯MPS II国家登记系统的数据。结果：RF中MPS II的患病率为每10万例活产中有0.62例，或每10万人口中有0.09例，大多数患者位于中部地区（n = 36）和伏尔加联邦区（n = 35）。男性有157例（99.4%），47例（29.7%）患者有MPS II家族史阳性。首次出现症状的中位年龄为1.8（0.8 - 2.6）岁，范围为0.1至19岁，诊断年龄为4.0（2.5；5.9）岁，范围为0.1至38.9岁。116例（73.4%）患者可进行基因研究分析。在98/116（84.5%）例患者中发现了IDS基因的单核苷酸变异，另有18例患者（15.5%）存在大片段重排。约59/98（60.2%）例患者有错义变异，15/98（15.3%）例有移码变异，12/98（12.2%）例有剪接位点变异，11/98（11.2%）例有无义变异。98例患者中有1例（1.0%）有小缺失。分别在54例（55.1%）、36例（36.7%）和8例（8.2%）患者中发现了致病、可能致病和意义未明的变异。约138例（87.3%）患者接受了酶替代治疗。结论：RF中MPS II的患病率高于一些欧洲国家，更接近亚洲人群。该登记系统是疾病流行病学和监测的便捷工具。
