TY - JOUR T1 - Multiple parapelvic cysts in Fabry disease JO - Nefrología (English Edition) T2 - AU - Azancot,María A. AU - Vila,Josefa AU - Domínguez,Carmen AU - Serres,Xavier AU - Espinel,Eugenia SN - 20132514 M3 - 10.1016/j.nefroe.2016.06.004 DO - 10.1016/j.nefroe.2016.06.004 UR - https://revistanefrologia.com/en-multiple-parapelvic-cysts-in-fabry-articulo-S2013251416300463 AB - 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. ER -