Ⅲ型糖原累积症的临床特点分析  

Clinical analysis of 50 cases of glycogen storage disease type Ⅲ

作　　者：庄太凤[1] 魏珉[2] 

机构地区：[1]首都医科大学附属北京妇产医院儿科,北京100026 [2]北京协和医院儿科

出　　处：《山西医科大学学报》2011年第2期132-134,共3页Journal of Shanxi Medical University

基　　金：国家自然科学基金资助项目(30900803)

摘　　要：目的分析Ⅲ型糖原累积症的临床特点。方法回顾分析1990-01～2010-01收治的50例Ⅲ型糖原累积症(gly-cogen storage disease typeⅢ,GSDⅢ)的临床资料。结果 50例GSDⅢ型患儿分布于全国20个省市,男36例,女14例;出现症状平均年龄为(1.2±0.9)岁,就诊平均年龄为(5.1±4.1)岁。50例(100%)GSDⅢ型患儿均有低血糖、肝脏肿大、肝功异常和肾上腺素刺激试验符合GSDⅢ,45例(90.0%)出现脾脏肿大,36例(72.0%)出现身材矮小,19例(38.0%)出现骨龄落后,25例(50.0%)出现肌无力,16例(32.0%)出现心脏肥大,50例(100%)肾脏均不肿大,34例(68.0%)出现代谢性酸中毒,30例(60.0%)出现高血脂,35例(70.0%)出现心肌酶高。42例患儿(84.0%)肝穿病理提示肝脏内有大量糖原堆积,未见肝纤维化。结论Ⅲ型糖原累积症是小儿较常见的遗传代谢病之一,临床表现差异较大,及早诊断治疗有可能改善小儿生存质量和预后。Objective To analyze the clinical characteristics of glycogen storage disease type Ⅲ（GSD Ⅲ）.Methods The clinical data of 50 children diagnosed as glycogen storage disease type Ⅲ from January 1990 to January 2010 were retrospectively analyzed.Results All 50 children,36 male and 14 female,aged（5.1±4.1）years,showed hypoglycemia,hepatomegaly,liver dysfunction,and no renomegaly,and epinephrine stimulation test consistent with GSD Ⅲ.Of 50 children,45（90.0%） showed splenomegaly,36（72.0%） for microsomia,19（38.0%） for bone age lag,25（50.0%） for myasthenia,16（32.0%） for cardiac hypertrophy,34（68.0%） for metabolic acidosis,30（60.0%） for hyperlipemia,35（70.0%） for raised creatin kinase.Liver puncture biopsy showed obvious glyogen storage in the liver of 42 chilren,but no fibrosis.Conclusion Glycogen storage disease type Ⅲ is one of the common pediatric metabolic diseases,and has obviously different clinical manifestation.Prompt diagnosis and treatment will improve the prognosis and the life quality.

关 键 词：Ⅲ型糖原累积症 低血糖 肝脏肿大 肾上腺素刺激试验 

分 类 号：R589.1[医药卫生—内分泌]