title: Simultaneous multicystic kidney and Anderson-Fabry disease: 2 separate entities or same side of the coin.
abstract: We present the case of a 54-year-old man with multicystic kidney and concomitant Anderson-Fabry disease. He was referred to our hospital with multiple renal and hepatic cysts, without apparent family history of autosomal dominant polycystic kidney disease. His clinical history suggested Anderson-Fabry disease, so an extensive work-up for Anderson-Fabry disease was subsequently undertaken. The alpha-galactosidase activity in his serum was low, and a final diagnosis of Anderson-Fabry disease with concomitant multicystic kidney was confirmed by genetic analysis.
authors: Department of Nephrology, University Federico II, Naples, Italy.
authors: Antonio
authors: A
authors: Pisani
authors: Eleonora
authors: E
authors: Riccio
authors: Bruno
authors: B
authors: Cianciaruso
authors: Massimo
authors: M
authors: Imbriaco
mesh_terms: D015897:Comorbidity; D000795:Fabry Disease / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D007668:Kidney / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D021782:Multicystic Dysplastic Kidney / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics; D009154:Mutation / Q000235:genetics; D009206:Myocardium / Q000473:pathology; D000519:alpha-Galactosidase / Q000097:blood / Q000235:genetics
chemical_list: D000519:alpha-Galactosidase