Rossi Massimiliano, Parenti Giancarlo, Della Casa Roberto, Romano Alfonso, Mansi Giuseppina, Agovino Teresa, Rosapepe Felice, Vosa Carlo, Del Giudice Ennio, Andria Generoso
Department of Pediatrics, Federico II University, Naples, Italy.
J Child Neurol. 2007 May;22(5):565-73. doi: 10.1177/0883073807302598.
Pompe disease is a rare autosomal recessive myopathy due to the deficiency of lysosomal acid alpha-glucosidase. Clinical phenotypes range from the severe classic infantile form (hypotonia and hypertrophic cardiomyopathy), to milder late onset forms (skeletal myopathy and absence of significant heart involvement). Enzyme replacement therapy with recombinant human alpha-glucosidase derived from either rabbit milk or Chinese hamster ovary cells has been introduced and is undergoing clinical trials. Reported is a long-term follow-up of 3 Pompe patients presenting without cardiomyopathy, treated with recombinant human alpha-glucosidase derived from Chinese hamster ovary cells. This study suggests that enzyme replacement therapy can lead to significant motor and respiratory improvement in the subgroup of patients who start the therapy before extensive muscle damage has occurred. The recombinant enzyme derived from Chinese hamster ovary cells, administered at doses significantly higher than previously reported, appears to have the same safety as the drug derived from rabbit milk.
庞贝病是一种罕见的常染色体隐性肌病，由溶酶体酸性α-葡萄糖苷酶缺乏所致。临床表型范围从严重的经典婴儿型（肌张力减退和肥厚型心肌病）到较轻的晚发型（骨骼肌病且无明显心脏受累）。用源自兔奶或中国仓鼠卵巢细胞的重组人α-葡萄糖苷酶进行的酶替代疗法已被引入并正在进行临床试验。报告了3例无心肌病的庞贝病患者接受源自中国仓鼠卵巢细胞的重组人α-葡萄糖苷酶治疗的长期随访情况。这项研究表明，酶替代疗法可使在广泛肌肉损伤发生之前开始治疗的患者亚组在运动和呼吸方面有显著改善。源自中国仓鼠卵巢细胞的重组酶，以明显高于先前报道的剂量给药，似乎与源自兔奶的药物具有相同的安全性。
