Fabry氏病是一种X连锁隐性遗传溶酶体病,是由于酸性水解酶α-半乳糖苷酶A(α-gal A)缺陷引起的。由于莱昂化作用的结果,此病有的杂合子可有非常低的α-galA活性,具有半合子病人一样严重的症状。但有的杂合子有正常表型及正常α-galA活性,即隐蔽携带者。作者对一个家系成员进行了临床、生化和细胞超微结构的研究确定先证者是新生突变的杂合子,而其他亲属无同样的基因缺陷。已有半合子新突变的报道,本例属杂合子新生突变的首例报道。先证者女性从16岁开始发病。反复肺和上呼吸道感染。发现角膜混浊及视网膜血管 Fabry’s disease is an X-linked recessive genetic lysosomal disorder that is caused by the deficiency of the acid hydrolase alpha-gal A. As a result of the leongogenesis, some heterozygotes of this disease may have very low alpha-galA activity with the same severe symptoms of hemizygous patients. However, some heterozygotes have normal phenotype and normal α-galA activity, that is, hidden carriers. The authors conducted a clinical, biochemical and cellular ultrastructural study of a pedigree to identify probands as heterozygotes for newborn mutations, while other relatives had no genetic defect. There have been reports of new hemizygous mutations, this case is the first report of heterozygous newborn mutations. The proband’s female onset from the age of 16. Repeated lung and upper respiratory tract infections. Corneal opacity and retinal blood vessels were found