复合型甘油激酶缺乏症的诊断和治疗进展

摘要

Glycerol kinase deficiency is an X chromosome recessive genetic metabolic defects,of which 90％ patients are male.Glycerol kinase deficiency is often sporadic,but sometimes inheritary.It is rare and can be divided into simple type and complex type.Complex glycerol kinase deficiency,also known as Xp21 associated gene deletion syndrome,has clinical manifestation that appears to be a syndrome of several isolated gene defects,including congenital adrenal dysplasia,hypertriglyceridemia,Duchenne muscular dystrophy,and is often misdiagnosed.Complex glycerol kinase deficiency is rare,often has early onset.If not treated timely,it can cause death even in the neonate.There is no effective cure for this disease,and the only choice is symptomatic treatment and limitting the intake of fat.For instance,when glycerol kinase deficiency is accompanied by adrenal cortical dysfunction,it usually requires the early alternative treatment of adrenal cortex hormones to prevent the occurrence of adrenal crisis.All clinicians should improve the understanding of the disease.This review is focused on the introduction of pathogenic characteristics,clinical features,genetic characterstics,genetic counseling,treatment and prognosis of complex glycerol kinase deficiency.%甘油激酶缺乏症是一种X染色体隐性遗传代谢缺陷病,90％患者为男性,常为散发,偶为家系遗传,临床少见,可分为单纯型和复合型.复合型甘油激酶缺乏症又称为Xp21临近基因缺失综合征,临床表现为同时出现多个单基因缺陷病的症候群,主要包括先天性肾上腺发育不良、高甘油血症、进行性假肥大性肌营养不良,常被误诊为其中的一种疾病.复合型甘油激酶缺乏症临床少见,常常起病早,若治疗不及时,新生儿期即可死亡,目前此病尚无有效根治方法,主要是对症治疗及限制脂肪的摄入量,如伴有肾上腺皮质功能低下者需及早进行肾上腺皮质激素的替代治疗以预防肾上腺危象的发生,因此应该提高对本病的认识,现重点介绍复合型甘油激酶缺乏症的发病特点、临床特点、基因特点、遗传咨询、治疗及预后.