Menkes病是一种罕见的X连锁隐性遗传病,由于ATP7A基因突变导致铜吸收障碍,铜相关酶功能缺陷,引起多系统功能障碍。该文拟通过对3例Menkes病患儿的临床经过和ATP7A基因突变分析对该症进行研究,并对1例再孕母亲进行产前诊断研究。3例男婴于8~9个月时来院就诊,均为婴儿期起病,主要表现为抽搐和智力运动落后,抗癫癎治疗无效,面色苍白,毛发稀疏、卷曲,小头,MRI扫描显示脑萎缩、白质异常、基底节损害和脑血管形态改变,血浆铜蓝蛋白均显著降低,分别为70.2、73.5、81.0 mg/L(参考值210~530 mg/L),符合经典型Menkes病临床表型。例1和2的ATP7A基因存在c.3914A>G(p.D1305G)突变,例3为c.3265G>T(p.G1089X)突变,均为新生突变。c.3914A>G(p.D1305G)为已知突变,c.3265G>T(p.G1089X)为新突变,均为我国首次报道。例1患儿的母亲再孕,于妊娠20周时抽取羊水细胞,通过胎儿ATP7A基因突变分析,进行产前诊断。羊水细胞ATP7A基因未见c.3914A>G,提示胎儿未患与先证者相同的疾病。胎儿出生后发育正常。 Menkes disease is a rare X-linked recessive genetic disease, due to mutations in the ATP7A lead to copper absorption disorders, copper-related enzyme function defects, causing multiple system dysfunction. This article intends to study the clinical manifestations of the three Menkes disease and ATP7A gene mutations in the study, and a case of pregnant women prenatal diagnosis. Three male infants came to hospital at 8-9 months, all of them infants onset. The main symptoms were convulsions and mental retardation, ineffective antiepileptic treatment, pale, sparse hair, curly head and MRI scan Cerebral atrophy, white matter abnormalities, basal ganglia damage and changes in cerebrovascular morphology, ceruloplasmin levels were significantly reduced, respectively 70.2,73.5,81.0 mg / L (reference value of 210 ~ 530 mg / L), in line with the classic clinical Menkes disease Phenotype. The ATP7A gene of Examples 1 and 2 has a c.3914A> G (p.D1305G) mutation, and Example 3 is a c.3265G> T (p.G1089X) mutation, all of which are nascent mutations. c.3914A> G (p.D1305G) is a known mutation, c.3265G> T (p.G1089X) is a new mutation, all of which are reported for the first time in our country. Example 1 The mother of a child was re-conceived, amniotic fluid cells were drawn at 20 weeks of gestation, and prenatal diagnosis was performed by analyzing the mutation of fetal ATP7A gene. No amniotic fluid ATP7A gene c.3914A> G, suggesting that the fetus does not have the same disease as the proband. Fetal development is normal after birth.