title: Multiple parapelvic cysts in Fabry disease.
abstract: 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.
authors.affiliation: Servicio de Nefrología, Hospital Universitari Vall d'Hebron, Barcelona, España.
authors.forename: María A
authors.initials: MA
authors.lastname: Azancot
authors.affiliation: Servicio de Nefrología, Hospital Universitari Vall d'Hebron, Barcelona, España.
authors.forename: Josefa
authors.initials: J
authors.lastname: Vila
authors.affiliation: CIBBIM-Nanomedicina, Hospital Universitari Vall d'Hebron, Barcelona, España.
authors.forename: Carmen
authors.initials: C
authors.lastname: Domínguez
authors.affiliation: Servicio de Radiología, Hospital Universitari Vall d'Hebron, Barcelona, España.
authors.forename: Xavier
authors.initials: X
authors.lastname: Serres
authors.affiliation: Servicio de Nefrología, Hospital Universitari Vall d'Hebron, Barcelona, España. Electronic address: eespinel@vhebron.net.
authors.forename: Eugenia
authors.initials: E
authors.lastname: Espinel
mesh_terms: D005091:Exons / Q000235:genetics; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis / Q000000981:diagnostic imaging; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000000981:diagnostic imaging / Q000209:etiology*; D007676:Kidney Failure, Chronic / Q000209:etiology; D007682:Kidney Pelvis / Q000473:pathology; D008297:Male; D008875:Middle Aged; D017384:Sequence Deletion; D000519:alpha-Galactosidase / Q000235:genetics
chemical_list: D000519:alpha-Galactosidase
keywords: De novo mutation; Enfermedad de Fabry; Fabry disease; Mutación de novo; Parapelvic cysts; Quistes parapiélicos