法布里(Fabry)病是X连锁遗传的溶酶体贮积症,发病率为1∶47.6万～1∶11.7万,其中男性新生儿发病率约为1∶4万。Fabry病在儿童时就可发病,到中年可出现危及生命的并发症。男性半合子发病早,受累重,多死于终末期肾功能衰竭,女性杂合子多于中年伴发左心室肥大。研究显示, Fabry disease is X-linked inherited lysosomal storage disease, the incidence of 1: 466,000 to 1: 117,000, of which the incidence of male neonates is about 1: 40000. Fabry disease can occur in childhood, life-threatening complications can occur in middle age. Male hemizygium incidence of early, affected by weight, and more died of end-stage renal failure, more heterozygous female than middle-aged with left ventricular hypertrophy. research shows,