van der Ploeg Ans T, Reuser Arnold J J
Department of Paediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC, Sophia Children's Hospital, University Medical Centre, Rotterdam, The Netherlands.
Lancet. 2008 Oct 11;372(9646):1342-53. doi: 10.1016/S0140-6736(08)61555-X.
Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the same metabolic disorder. It is a pan-ethnic autosomal recessive trait characterised by acid alpha-glucosidase deficiency leading to lysosomal glycogen storage. Pompe's disease is also regarded as a muscular disorder, but the generalised storage of glycogen causes more than mobility and respiratory problems. The clinical spectrum is continuous and broad. First symptoms can present in infants, children, and adults. Cardiac hypertrophy is a key feature of classic infantile Pompe's disease. For a long time, there was no means to stop disease progression, but the approval of enzyme replacement therapy has substantially changed the prospects for patients. With this new development, the disease is now among the small but increasing number of lysosomal storage disorders, for which treatment has become a reality. This review is meant to raise general awareness, to present and discuss the latest insights in disease pathophysiology, and to draw attention to new developments about diagnosis and care. We also discuss the developments that led to the approval of enzyme replacement therapy with recombinant human alpha-glucosidase from Chinese hamster ovary cells (alglucosidase alfa) by the US Food and Drug Administration and European Medicines Agency in 2006, and review clinical practice.
庞贝氏病、II型糖原贮积病和酸性麦芽糖酶缺乏症是同一种代谢紊乱的不同名称。它是一种全民族的常染色体隐性性状，其特征是酸性α-葡萄糖苷酶缺乏导致溶酶体糖原贮积。庞贝氏病也被视为一种肌肉疾病，但糖原的广泛贮积所导致的问题不止于运动和呼吸方面。其临床症状范围广泛且呈连续性。最初症状可出现在婴儿、儿童和成人身上。心脏肥大是典型婴儿型庞贝氏病的关键特征。长期以来，没有办法阻止疾病进展，但酶替代疗法的获批极大地改变了患者的前景。随着这一新进展，该疾病现已属于少数但数量不断增加的溶酶体贮积病之一，针对这些疾病的治疗已成为现实。本综述旨在提高公众意识，呈现并讨论疾病病理生理学的最新见解，并提请关注诊断和护理方面的新进展。我们还将讨论促成2006年美国食品药品监督管理局和欧洲药品管理局批准使用源自中国仓鼠卵巢细胞的重组人α-葡萄糖苷酶（阿糖苷酶α）进行酶替代疗法的相关进展，并回顾临床实践。
