The outcome of 110 patients with paediatric onset mucopolysaccharidosis II (MPS II) since the commercial introduction of enzyme replacement therapy (ERT) in England in 2007 is reported. Median length of follow up was 10 years 3 months (range = 1 y 2 m to 18 years 6 month). 78 patients were treated with ERT, 18 had no ERT or disease modifying treatment 7 had haematopoietic stem cell transplant, 4 experimental intrathecal therapy and 3 were lost to follow up. There is clear evidence of improved survival (median age of death of ERT treated (n = 16) = 15.13 years (range = 9.53 to 20.58 y), and untreated (n = 17) = 11.43 y (0.5 to 19.13 y) p = .0005). Early introduction of ERT improved respiratory outcome at 16 years, the median FVC (% predicted) of those in whom ERT initiated <8 years = 69% (range = 34-86%) and 48% (25-108) (p = .045) in those started >8 years. However, ERT appears to have minimal impact on hearing, carpal tunnel syndrome or progression of cardiac valvular disease. Cardiac valvular disease occurred in 18/46 (40%), with progression occurring most frequently in the aortic valve 13/46 (28%). The lack of requirement for neurosurgical intervention in the first 8 years of life suggests that targeted imaging based on clinical symptomology would be safe in this age group after baseline assessments. There is also emerging evidence that the neurological phenotype is more nuanced than the previously recognized dichotomy of severe and attenuated phenotypes in patients presenting in early childhood.

中文翻译：

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在英格兰的小儿发作性粘多糖贮积病II中使用了十年的酶替代疗法。

自2007年在英国商业引入酶替代疗法（ERT）以来，已有110例小儿发作性粘多糖贮积病II（MPS II）患者的报道。随访的中位时间为10年3个月（范围= 1 y 2 m至18年6个月）。78例接受ERT治疗，18例未进行ERT或未进行疾病改良治疗，7例进行了造血干细胞移植，4例进行了鞘内实验治疗，3例失去了随访。有明确的证据可以改善生存率（接受ERT治疗的中位死亡年龄（n = 16）= 15.13岁（范围= 9.53至20.58 y）和未经治疗（n = 17）= 11.43 y（0.5 to 19.13 y）p = .0005）。ERT的早期引入改善了16岁时的呼吸结果，ERT开始<8年的患者的中值FVC（预测的百分比）分别为69％（范围= 34-86％）和48％（25-108）（p =）。045）开始的时间超过8年。然而，ERT似乎对听力，腕管综合症或心脏瓣膜疾病的进展影响很小。心脏瓣膜疾病发生在18/46（40％），进展最快的发生在主动脉瓣膜13/46（28％）。在生命的前8年中无需进行神经外科干预，这表明在基线评估后，在这一年龄组中，基于临床症状的靶向成像将是安全的。也有新的证据表明，在儿童早期出现的患者中，神经表型比以前公认的严重和减毒表型二分法更加细微差别。心脏瓣膜疾病发生在18/46（40％），进展最快的发生在主动脉瓣膜13/46（28％）。在生命的前8年中无需进行神经外科干预，这表明在基线评估后，在这一年龄组中，基于临床症状的靶向成像将是安全的。也有新的证据表明，在儿童早期出现的患者中，神经表型比以前公认的严重和减毒表型二分法更加细微差别。心脏瓣膜疾病发生在18/46（40％），进展最快的发生在主动脉瓣膜13/46（28％）。在生命的前8年中无需进行神经外科干预，这表明在基线评估后，在这一年龄组中，基于临床症状的靶向成像将是安全的。也有新的证据表明，在儿童早期出现的患者中，神经表型比以前公认的严重和减毒表型二分法更加细微差别。