Metabolic Diseases Clinic, The Children's Memorial Health Institute, Warsaw, Poland.
Acta Paediatr. 2012 Jan;101(1):e42-7. doi: 10.1111/j.1651-2227.2011.02385.x. Epub 2011 Jun 29.
We present a 3-year follow-up of a boy with mucopolysaccharidosis type II (MPS II) who had idursulfase therapy initiated at the age of 3 months and compare his clinical course to his healthy twin brother.
Detailed anthropometric features, ultrasound studies of liver and spleen volumes, echocardiography and audiological examinations, psychological tests, joint range of motion (ROM) and skeletal radiographs were monitored.
After 3 years of treatment, the patient has not developed any clinical manifestations of MPS II. He did not develop coarse facial features, joint disease, or organomegaly, and his cardiac function remained normal. There were no pronounced signs of dysostosis multiplex on radiographs. The only difference when compared with his healthy twin brother was lower IQ (Termann-Merrill 98 vs. 118) and mild deformity of one vertebrae.
Our study suggests that early initiation of enzyme replacement therapy may significantly slow or prevent the development of irreversible disease manifestations and therefore modify the natural history of MPS II.
我们报告了一例黏多糖贮积症 II 型（MPS II）患儿的 3 年随访结果，该患儿在 3 个月大时开始接受艾杜硫酸酶治疗，我们将其临床病程与他健康的双胞胎兄弟进行了比较。
详细监测了人体测量特征、肝脏和脾脏体积的超声研究、超声心动图和听力学检查、心理测试、关节活动度（ROM）和骨骼 X 线片。
经过 3 年的治疗，患者未出现任何 MPS II 的临床表现。他没有出现面容粗糙、关节疾病或器官肿大，心脏功能仍保持正常。X 线片上也没有明显的多发骨发育不良迹象。与他健康的双胞胎兄弟相比，唯一的区别是智商较低（Termann-Merrill 为 98，而正常范围为 118），以及一个椎体的轻度畸形。
我们的研究表明，早期开始酶替代治疗可能显著减缓或预防不可逆疾病表现的发展，从而改变 MPS II 的自然病程。
