PDF(Pubmed)
Abstract：
Background: Mucopolysaccharidosis Type II (MPS II) is a rare, progressive and ultimately fatal X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene. This report conducted a retrospective analysis to investigate the clinical characteristics, genotypes and management strategies in a large cohort of Chinese patients with MPS II. Methods: In this study, we explored 130 Chinese patients with MPS II between September 2008 and April 2022. Clinical manifestations, auxiliary examination, IDS pathogenic gene variants and IDS enzyme activity, surgical history were analysed in the study. Results: A total of 130 patients were enrolled and the mean age at diagnosis was 5 years old. This study found the most common symptoms in our patients were claw-like hands, followed by coarse facial features, birthmarks (Mongolian spot), delayed development, inguinal or umbilical hernia. The most commonly cardiac manifestations were valve abnormalities, which were mitral/tricuspid valve regurgitation (71.9%) and aortic/pulmonary valve regurgitation (36.8%). We had found 43 different IDS pathogenic gene variants in 55 patients, included 16 novel variants. The variants were concentrated in exon 9 (20% = 11/55), exon 3 (20% = 11/55) and exon 8 (15% = 8/55). A total of 50 patients (38.5%) underwent surgical treatment, receiving a total of 63 surgeries. The average age of first surgery was 2.6 years, and the majority of surgery (85.7%, 54/63) was operated before 4 years old. The most common and earliest surgery was hernia repair. Three patients were died of respiratory failure. Conclusion: This study provided additional information on the clinical, cardiac ultrasound and surgical procedure in MPS II patients. Our study expanded the genotype spectrum of MPS II. Based on these data, characterization of MPS II patients group could be used to early diagnosis and treatment of the disease.
摘要：
背景：II型粘多糖贮积症（MPSII）是一种罕见的，由艾杜糖醛酸-2-硫酸酯酶（IDS）基因突变引起的进行性和最终致命的X连锁溶酶体贮积症。本报告进行了回顾性分析，以探讨其临床特点，大量中国MPSII患者的基因型和管理策略。方法:在本研究中,我们调查了2008年9月至2022年4月期间的130例中国MPSII患者.临床表现,辅助检查,IDS致病基因变体和IDS酶活性，研究中分析了手术史.结果：共纳入130例患者，诊断时平均年龄为5岁。这项研究发现，我们患者最常见的症状是爪状的手，其次是粗糙的面部特征，胎记（蒙古斑），延迟发展，腹股沟或脐疝。最常见的心脏表现是瓣膜异常，分别为二尖瓣/三尖瓣反流（71.9%）和主动脉瓣/肺动脉瓣反流（36.8%）。我们在55例患者中发现了43种不同的IDS致病基因变异，包括16个新的变体。变体集中在外显子9（20％=11/55），外显子3(20%=11/55)和外显子8(15%=8/55)。共有50例(38.5%)患者接受手术治疗,共接受63次手术。第一次手术的平均年龄为2.6岁,和大多数手术（85.7%，54/63）在4岁之前手术。最常见和最早的手术是疝修补术。3例患者死于呼吸衰竭。结论：这项研究提供了更多的临床信息，MPSII患者的心脏超声和外科手术。我们的研究扩展了MPSII的基因型谱。基于这些数据,MPSⅡ组患者的定性可用于该病的早期诊断和治疗。
