title: Enzyme replacement therapy for Fabry disease: morphologic and histochemical changes in the urinary sediments.
abstract: BACKGROUND
  Fabry disease is an X-linked lysosomal storage disease resulting from deficient activity of the enzyme alpha-galacotsidase A. Accumulation of glycosphingolipids, especially globotriaosylceramide, leads to renal damage in Fabry disease. In patients with Fabry disease, the urinary sediment contains excreted glycosphingolipids. With enzyme replacement therapy for Fabry disease now currently available, we examined whether the urinary sediment could be used to noninvasively monitor effectiveness of enzyme replacement therapy.
  
  
  METHODS
  Four male patients with hemizygous classical Fabry disease received recombinant alpha-galactsidase A biweekly, and urinary sediments were assessed at 3-month intervals.
  
  
  RESULTS
  The morphologic and immunohistochemical changes in urinary sediment at 6 and 18 months suggested that accumulations of glycosphingolipids in renal tissues were cleared by enzyme replacement.
  
  
  CONCLUSIONS
  Examination of urinary sediments could serve as noninvasive monitoring of the effect of therapy in patients with Fabry disease.
authors.affiliation: Second Department of Internal Medicine, Nippon Medical School, 1-1-5, Sendagi, Bunkyo-ku, Tokyo, 113-8603, Japan. utsumi@nms.ac.jp
authors.forename: Kouichi
authors.initials: K
authors.lastname: Utsumi
authors.forename: Futoshi
authors.initials: F
authors.lastname: Mitsuhashi
authors.forename: Koichi
authors.initials: K
authors.lastname: Asahi
authors.forename: Makoto
authors.initials: M
authors.lastname: Sakurazawa
authors.forename: Kazumasa
authors.initials: K
authors.lastname: Arii
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Komaba
authors.forename: Toshiya
authors.initials: T
authors.lastname: Katsumata
authors.forename: Ken-Ichiro
authors.initials: K
authors.lastname: Katsura
authors.forename: Ryoichi
authors.initials: R
authors.lastname: Kase
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Katayama
mesh_terms: D000328:Adult; D016903:Drug Monitoring / Q000379:methods*; D057487:Enzyme Therapy; D000795:Fabry Disease / Q000188:drug therapy* / Q000652:urine*; D006028:Glycosphingolipids / Q000652:urine; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D014556:Urine / Q000737:chemistry / Q000166:cytology; D000519:alpha-Galactosidase / Q000008:administration & dosage*
chemical_list: D006028:Glycosphingolipids; D000519:alpha-Galactosidase