儿童复合型甘油激酶缺乏症

Complex glycerol kinase deficiency in three children

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。［中国当代儿科杂志，2007，9（5）：441-444］

Abstract:

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.