Melpignano Andrea, Mandurino-Mirizzi Alessandro, Besagni Francesca, Leri Annarosa
Post-Graduate School of Neurology, University of Parma.
Acta Biomed. 2014 May 9;85(1):81-4.
Fabry disease (angiokeratoma corporis diffusum universale) is a rare, progressive, X-linked lysosomal storage disease. Deficiency of the α-galactosidase A (α-gal A) enzyme leads to accumulation of neutral glycosphingolipids within vascular endothelial lysosomes of various organs, including skin, kidneys, heart, and brain (1). We herein describe the case of a 30-year-old female presenting two classic signs of Fabry disease, angiokeratomas and episodic acroparesthesias, in the absence of other clinical manifestations. An haplotype corresponding to the combination of three different nucleotide polymorphic variants (g. 7192-7198del5+ g. 10115A>G + g. 10956 C>T) at the heterozygous state, was identified (2).
法布里病（弥漫性全身性血管角质瘤）是一种罕见的、进行性的、X连锁溶酶体贮积病。α-半乳糖苷酶A（α-gal A）酶缺乏导致中性糖鞘脂在包括皮肤、肾脏、心脏和大脑在内的各种器官的血管内皮溶酶体内蓄积（1）。我们在此描述了一名30岁女性的病例，该患者出现了法布里病的两个典型体征，即血管角质瘤和发作性肢端感觉异常，且无其他临床表现。鉴定出一种杂合状态下对应于三种不同核苷酸多态性变体（g.7192 - 7198del5 + g.10115A>G + g.10956 C>T）组合的单倍型（2）。
