Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK.
J Inherit Metab Dis. 2010 Dec;33(6):747-50. doi: 10.1007/s10545-010-9206-3. Epub 2010 Sep 24.
Treatment of infantile Pompe disease with recombinant human acid α-glucosidase has shown substantial improvement in survival, and in cardiac, motor and respiratory functions. We analyzed the outcome of all patients with infantile Pompe disease treated in the United Kingdom since the availability of the enzyme, using a questionnaire-based survey circulated to all treating centres. A total of 20 infants were treated from 2000 to 2009. Median ages at diagnosis and treatment were 5.75 months (range 0.25-31 months) and 6.5 months (0.5-32 months), respectively. Median duration of treatment was 31 months (1-102 months). Overall ventilator-free survival was 35% (7/20 infants), while 35% (7/20) died at a median age of 10 months (5.75-15 months) and 30% (6/20) were alive but ventilator-dependent. Endotracheal intubation for acute deterioration carried a high risk of failure of extubation and progression to long-term ventilation (LTV), but elective general anaesthesia, in contrast, was well tolerated. Overall outcome was worse than in the pivotal clinical trials; possible causes include later diagnosis and treatment in our patients and a higher incidence of infants at the severe end of the clinical spectrum. Careful consideration must be given to all possible outcomes, including LTV, before commencing enzyme replacement therapy in newly diagnosed infants.
使用重组人酸性α-葡萄糖苷酶治疗婴儿庞贝病已显著改善了患者的生存率，以及心脏、运动和呼吸功能。我们采用问卷调查的方式，对英国自酶类药物问世以来所有接受治疗的婴儿庞贝病患者的结局进行了分析，该问卷已分发给所有治疗中心。2000 年至 2009 年期间共治疗了 20 例婴儿。诊断和治疗时的中位年龄分别为 5.75 个月（0.25-31 个月）和 6.5 个月（0.5-32 个月）。中位治疗时间为 31 个月（1-102 个月）。总体无呼吸机存活 35%（7/20 例婴儿），35%（7/20）的婴儿死亡，中位年龄为 10 个月（5.75-15 个月），30%（6/20）存活但依赖呼吸机。因病情急性恶化行气管插管，其拔管失败和进展为长期通气（LTV）的风险较高，但择期全身麻醉则可较好耐受。总体结局较关键性临床试验更差；可能的原因包括我们的患者诊断和治疗较晚，以及临床谱中处于严重程度末端的婴儿发病率较高。在开始对新诊断的婴儿进行酶替代治疗之前，必须仔细考虑所有可能的结局，包括 LTV。
