Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients
Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients
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DOI：
10.1093/brain/awh384
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发表时间：
2005-03-01
期刊：
影响因子：
14.5
通讯作者：
Van der Ploeg, AT
中科院分区：
文献类型：
--
作者：
Hagemans, MLC;Winkel, LPF;Van der Ploeg, AT
晚发型Pompe‘s病(酸性麦芽糖酶缺乏症，糖原贮积症II型)是一种由酸性α-葡萄糖苷酶缺乏引起的缓慢进行性肌病。目前酶替代疗法的发展需要详细了解症状的种类和严重程度，以及患者群体中疾病的自然病程。制定了一份详细的问卷，涵盖了患者的病史和现状，并从54名荷兰患者那里收集了信息。参与者的平均年龄为48.6+/-15.6岁。首发症状的平均年龄为28.1+/-14.3岁，主要与活动障碍和四肢腰带无力有关。58%的成年患者表示在儿童时期出现了轻微的肌肉症状。28%的患者在因疾病相关的疾病而第一次去看医生后等待了5年才得到最终诊断。在问卷完成时，48%的研究人群使用轮椅，37%使用人工通风。对于超过三分之二的受访者来说，从扶手椅上站起来、爬楼梯或弯腰后站起来等动作都很困难或不可能。不同患者的发病年龄、疾病进展速度以及呼吸和骨骼肌受累顺序有很大差异。76%的参与者表示受到疲劳的困扰，46%的参与者表示受到疼痛的困扰。这项调查绘制了一大群荷兰患者的发病年龄、出现的症状、进展的异质性和疾病严重程度的范围。我们的结论是，儿童时期的早期表现需要适当的关注，以防止不必要的诊断延误。迟发性Pompe病患者的随访重点应放在呼吸和四肢带肌功能、日常活动能力以及疲劳和疼痛的表现上。
Late-onset Pompe's disease (acid maltase deficiency, glycogen storage disease type II) is a slowly progressive myopathy caused by deficiency of acid alpha-glucosidase. Current developments in enzyme replacement therapy require detailed knowledge of the kind and severity of symptoms and the natural course of the disease in the patient population. A detailed questionnaire covering the patients' medical history and current situation was developed and information was gathered from 54 Dutch patients. The mean age of the participants was 48.6 +/- 15.6 years. The first complaints started at a mean age of 28.1 +/- 14.3 years and were mostly related to mobility problems and limb-girdle weakness. Fifty-eight percent of the adult patients indicated the presence of mild muscular symptoms during childhood. Twenty-eight percent of the patients waited >5 years for the final diagnosis after the first visit to a physician for disease-related complaints. At the time of questionnaire completion, 48% of the study population used a wheelchair and 37% used artificial ventilation. Movements such as rising from an armchair, taking stairs or getting upright after bending over were difficult or impossible for more than two-thirds of the respondents. The age at onset, the rate of disease progression and the sequence of respiratory and skeletal muscle involvement varied substantially between patients. Seventy-six percent of the participants indicated being troubled by fatigue and 46% by pain. This survey has mapped the age at onset, presenting symptoms, heterogeneity in progression and range of disease severity in a large group ofDutch patients. We conclude that early manifestations in childhood require proper attention to prevent unnecessary delay of the diagnosis. The follow-up of patients with late-onset Pompe's disease should focus on respiratory and limb-girdle muscle function, the capacity to perform daily activities, and the presentation of fatigue and pain.