儿童庞贝病：一种代谢性肌病。
Pompe's Disease in Childhood: A Metabolic Myopathy.
作者信息
Raju U, Shaw S C, Rana K S, Sharma M, Ramamurthy H R
机构信息
AOC, 7 Air Force Hospital, Kanpur Cantt.
Graded Specialist (Paediatrics), 164 Military Hospital, C/O 99 APO.
出版信息
Med J Armed Forces India. 2010 Jan;66(1):32-6. doi: 10.1016/S0377-1237(10)80089-9. Epub 2011 Jul 21.
BACKGROUND
Myopathy of metabolic origin in childhood occurs due to a variety of conditions. Pompe's Disease also known as Glycogen storage disease Type II, is a rare storage disorder with clinical presentation akin to spinal muscular atrophy.
METHODS
A series of patients with suspected metabolic myopathy were reviewed at a tertiary care service hospital over a period of three years. The diagnosis was confirmed by estimation of acid alpha glucosidase activity.
RESULT
At our centre, these cases presented with generalized hypotonia, organomegaly (hepatomegaly, cardiomegaly) and congestive cardiac failure. Infantile onset, the most severe form of Pompe's disease, was the commonest form accounting for 75% of the cases. Four of the babies with infantile onset Pompe's disease expired, three due to refractory heart failure and one to fulminant respiratory infection before 15 months of age.
CONCLUSION
Pompe's Disease is now being increasingly diagnosed, due to definitive enzyme estimation facilities. With the recent availability of enzyme replacement therapy with Myozyme, the prognosis is likely to change for the better.
背景
儿童期代谢性肌病由多种情况引起。庞贝病也称为糖原贮积病II型，是一种罕见的贮积性疾病，临床表现类似于脊髓性肌萎缩症。
方法
在一家三级医疗服务医院对一系列疑似代谢性肌病的患者进行了为期三年的回顾。通过估计酸性α-葡萄糖苷酶活性来确诊。
结果
在我们中心，这些病例表现为全身肌张力减退、器官肿大（肝肿大、心脏肿大）和充血性心力衰竭。婴儿期起病是庞贝病最严重的形式，也是最常见的形式，占病例的75%。4例婴儿期起病的庞贝病患儿死亡，3例死于难治性心力衰竭，1例在15个月龄前死于暴发性呼吸道感染。
结论
由于有了确切的酶测定设施，庞贝病现在越来越多地被诊断出来。随着最近可用的酶替代疗法Myozyme的出现，预后可能会改善。
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