Azancot María A, Vila Josefa, Domínguez Carmen, Serres Xavier, Espinel Eugenia
Servicio de Nefrología, Hospital Universitari Vall d'Hebron, Barcelona, España.
CIBBIM-Nanomedicina, Hospital Universitari Vall d'Hebron, Barcelona, España.
Nefrologia. 2016 May-Jun;36(3):310-2. doi: 10.1016/j.nefro.2015.12.003. Epub 2016 Apr 6.
Fabry disease is an inherited, X-linked lysosomal storage disorder caused by deficiency of the enzyme alpha galactosidase A (alpha-GLA A), which leads to glycosphingolipid accumulation, mainly globotriaosylceramide, in tissues. Disease prevalence and the index of suspicion are both low, which tends to result in delayed diagnosis and treatment. We present the case of a male Fabry disease patient who manifested no angiokeratoma lesions but presented multiple parapelvic cysts and renal failure. The genetic study revealed an alpha-GLA A gene mutation that had not been recorded in the mutations registry. The de novo mutation was not found in his relatives and it was not transmitted to his offspring. The large number and peculiar appearance of the parapelvic cysts led to the diagnosis.
法布里病是一种遗传性X连锁溶酶体贮积症，由α-半乳糖苷酶A（α-GLA A）缺乏引起，导致糖鞘脂在组织中蓄积，主要是球三糖神经酰胺。该病的患病率和疑似指数都很低，这往往导致诊断和治疗延迟。我们报告一例男性法布里病患者，该患者未出现血管角质瘤病变，但有多个肾盂旁囊肿和肾衰竭。基因研究发现了一个α-GLA A基因突变，该突变未记录在突变登记册中。该新生突变在其亲属中未发现，也未遗传给其后代。肾盂旁囊肿的数量众多且外观奇特，从而得以确诊。
