2月龄男性，新生儿期起病，存在肾上腺皮质功能减退、肝功能损害、肌酶显著增高、高脂血症、电解质紊乱等多系统损害，结合微阵列比较基因组杂交技术发现的X染色体短臂（Xp21.3-p21.1） 8.7 Mb致病性拷贝缺失，确诊为复合型甘油激酶缺乏症（cGKD）。予氢化可的松替代和大剂量辅酶Q10联合左卡尼汀治疗，并随访4年。治疗1周患儿皮质醇水平即恢复正常，但肌酸肌酶、甘油三脂及转氨酶进行性升高，伴智力发育落后及肌力减退。cGKD又称Xp21邻近基因缺失综合征，症状包括甘油激酶缺乏所致的高甘油三脂血症以及先天性肾上腺发育不良（AHC）、杜氏肌营养不良（DMD）、智力发育迟缓（MR）等症候群。对于以先天性肾上腺皮质功能不全为表现的患儿，应注意监测血肌酸激酶及甘油三脂水平，必要时行基因检测以免误诊。
Abstract
A 2-month-old boy presented with adrenal insufficiency, impaired liver function, hypertriglyceridemia, significantly elevated creatine kinase and electrolyte disturbance. Microarray comparative genomic hybridization (aCGH) analysis test showed a pathogenic 8.7 Mb deletion in the short arm of chromosome X (Xp21.3 - p21.1) and confirmed the diagnosis of complex glycerol kinase deficiency (cGKD). He was treated with hydrocortisone, coenzyme Q10 and L-carnitine and was subsequently followed up for 4 years. His serum cortisol levels returned to normal one week later after treatment, but the serum creatine kinase, triglyceride and aminotransferase levels were progressively increased along with mental retardation and decreased muscular strength. cGKD is also named as Xp21 contiguous gene syndrome. The clinical manifestations of this disease include hypertriglyceridemia, congenital adrenal hypoplasia (AHC), Duchenne muscular dystrophy, and mental retardation. This case highlights the necessity to screen the serum triglyceride and creatine kinase levels in infants with suspected adrenal insufficiency.
关键词
复合型甘油激酶缺乏症 /
微阵列比较基因组杂交技术 /
Xp21邻近基因缺失综合征 /
婴儿
Key words
Complex glycerol kinase deficiency /
Array comparative genomic hybridization /
Xp21 contiguous gene syndrome /
Infant
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参考文献
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