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Nefrología (Madrid)

versión On-line ISSN 1989-2284versión impresa ISSN 0211-6995

Resumen

AZANCOT, María A. et al. Multiple parapelvic cysts in Fabry disease. Nefrología (Madr.) [online]. 2016, vol.36, n.3, pp.310-312. ISSN 1989-2284.  http://dx.doi.org/10.1016/j.nefro.2015.12.003.

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.

Palabras clave : Fabry diseasem; Parapelvic cysts; De novo mutation.

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