title: A Renal Variant of Fabry Disease Diagnosed by the Presence of Urinary Mulberry Cells.
abstract: Fabry disease is a lysosomal storage disorder caused by a deficiency of α-galactosidase A. This disease is classified into two types, namely a classical and variant type. We herein present the case of a 36-year-old man who showed a renal variant of Fabry disease and was diagnosed at an early stage by the presence of mulberry cells. He had no history of general symptoms except for proteinuria. The presence of mulberry cells caused us to suspect Fabry disease and he was thereafter diagnosed to have a renal variant of Fabry disease based on the findings of a renal biopsy, a mutation analysis and a low level of α-galactosidase A activity.
authors.affiliation: Department of Nephrology, Tokyo Medical University Ibaraki Medical Center, Japan.
authors.forename: Homare
authors.initials: H
authors.lastname: Shimohata
authors.forename: Yujiro
authors.initials: Y
authors.lastname: Ogawa
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Maruyama
authors.forename: Kouichi
authors.initials: K
authors.lastname: Hirayama
authors.forename: Masaki
authors.initials: M
authors.lastname: Kobayashi
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000175:diagnosis* / Q000652:urine; D006801:Humans; D007668:Kidney / Q000473:pathology*; D007674:Kidney Diseases / Q000175:diagnosis* / Q000652:urine; D008297:Male; D016482:Urinalysis; D014556:Urine / Q000166:cytology