儿童复合型甘油激酶缺乏症  

Complex glycerol kinase deficiency in three children

作　　者：李秀珍[1] 刘丽[1] 梅慧芬[1] 

机构地区：[1]广州市儿童医院内分泌代谢科,广东广州510120

出　　处：《中国当代儿科杂志》2007年第5期441-444,共4页Chinese Journal of Contemporary Pediatrics

基　　金：973国家重点基础研究发展规划项目-中国人口出生缺陷的遗传与环境可控性研究(2001CB510306);广东省科技厅计划项目(2004B36001040)

摘　　要：甘油激酶缺乏症(GKD)是一种少见的X染色体隐性遗传性代谢缺陷病,可分为单纯型和复合型。复合型又称为Xp21邻近基因缺失综合征,是由于位于Xp21区域包含有甘油激酶基因位点的不同大小片段基因的缺失所致,常见受累的相邻基因位点为先天性肾上腺发育不良(AHC)、杜氏肌营养不良(DMD),临床表现取决于所累及的基因位点。尿液气相色谱-质谱(GC-MS)联用分析检出大量甘油可确定诊断。该文3例患儿均为男性,新生儿期即出现症状,均有先天性肾上腺皮质功能低下、高甘油尿症及杜氏肌营养不良相应的典型临床表现。经限制脂肪摄入及糖皮质激素治疗,肾上腺皮质功能不足症状明显改善,但肌无力进行性加重,随访中两例已死于肾上腺皮质危象。Glycerol kinase deficiency （GKD）, a rare X-linked recessive disorder, is classified into two types： isolated and complex. Complex GKD is an Xp21 contiguous gene deletion involving the glycerol kinase locus together with the adrenal hypoplasia congenita （ AHC ） or Duchenne muscular dystrophy （ DMD ） loci or both. Its clinical features depend on the involved loci. GKD can be confirmed by an elevated urinary glycerol concentration tested by gas chromatography mass spectrometry （GC/MS）. The three cases reported here were all male, presenting symptoms from neonatal period. The predominant clinical profile was characterized by hypoadrenocorticism, glyceroluria and Duchenne muscular dystrophy. After receiving a low fat diet and glucocorticoid replacement, they improved with relieved symptoms of hypoadrenocorticism. But they had significant developmental delays and myasthenia. In the follow-up two of them died of adrenal crisis.

关 键 词：甘油激酶缺乏症 肾上腺皮质功能低下 儿童 

分 类 号：R725.8[医药卫生—儿科]