Enzyme replacement therapy for Fabry disease: morphologic and histochemical changes in the urinary sediments.
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.
Utsumi
Kouichi
K
Second Department of Internal Medicine, Nippon Medical School, 1-1-5, Sendagi, Bunkyo-ku, Tokyo, 113-8603, Japan. utsumi@nms.ac.jp
Mitsuhashi
Futoshi
F
Asahi
Koichi
K
Sakurazawa
Makoto
M
Arii
Kazumasa
K
Komaba
Yuichi
Y
Katsumata
Toshiya
T
Katsura
Ken-Ichiro
K
Kase
Ryoichi
R
Katayama
Yasuo
Y
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*
D006028:Glycosphingolipids; D000519:alpha-Galactosidase