Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: From our experience of 4 cases including an autopsy case
Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: From our experience of 4 cases including an autopsy case
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DOI：
10.1016/j.ymgme.2010.01.015
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发表时间：
2010-05-01
影响因子：
3.8
通讯作者：
Ida, Hiroyuki
中科院分区：
文献类型：
--
作者：
Kobayashi, Hiroshi;Shimada, Yohta;Ida, Hiroyuki
我们报告4例迟发性糖原累积病II型（GSD II）或庞贝氏症（OMIM #232300），根据。用重组人酸性α葡糖苷酶（rh-GM，OMIM *606800）进行酶替代疗法（ERT）。在这4例病例中，我们重点关注了一例28岁男性病例，其在ERT开始时的状况最差，导致预后不良。尸检是在其家人的许可下进行的，结果显示他的肌肉，特别是膈肌或髂腰肌中糖原严重积聚，肺静脉闭塞病导致严重的肺动脉高压。这是首次报道PVOD作为Pompe病PH的原因。我们将此病例与我院另外3例接受ERT治疗的晚发性庞贝氏症患者进行比较研究，并对接受ERT治疗的晚发性庞贝氏症伴严重肺功能不全组的平均数据进行分析，假设基线时体重指数（BMI）评分较低，存在特定基因型，（p.R600C）和提示PH的肺功能障碍体征（呼吸急促，超声心动图数据）是影响预后的因素。为了改善迟发性庞贝氏症的预后，在呼吸衰竭发生前早期诊断并早期开始ERT非常重要，即使在ERT开始后也需要精心的管理和护理，特别是对于包括肺功能障碍在内的严重病例。(C)2010年爱思唯尔公司All rights reserved.
We report 4 cases of late onset glycogen storage disease type II (GSD II) or Pompe disease (OMIM #232300), under. enzyme replacement therapy (ERT) with recombinant human acid alpha glucosidase (rh-GM, OMIM *606800). In these 4 cases, we focused on the case of a 28-years-old man, whose condition at the ERT starting was the worst and resulted in poor prognosis. The autopsy was done under his family's permission, and revealed severe accumulation of glycogen in his muscle, especially diaphragm or iliopsoas, and pulmonary veno-occlusive disease (PVOD) which resulted in severe pulmonary hypertension (PH). This is the first report of PVOD as the cause of PH in Pompe disease. We studied this case comparing to another 3 cases of late onset Pompe disease under the same course of ERT in our hospital, and the average data of the group of late onset Pompe disease with severe pulmonary insufficiency receiving ERT, supposed that low score of the body mass index (BMI) on the baseline, the presence of specific genotype (p.R600C), and signs of pulmonary dysfunction suggesting PH (tachypnea, ultrasound cardiography data) were factors that influenced the prognosis. For a better prognosis in the late onset Pompe disease, an early diagnosis for the early start of ERT before the onset of respiratory failure should be important, and the deliberate management and care should be needed even after the ERT start, especially for severe cases including pulmonary dysfunction. (C) 2010 Elsevier Inc. All rights reserved.