Renal Involvement in Fabry’s Disease

Internal Medicine

Volumn 39, Issue 8, 2000, Pages 601-602

  Okuda, Seiya ^a  

^a KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

a galactosidase A; osmiophilic inclusions; sphingolipid storage; vacuolated cells

Indexed keywords

ALPHA GALACTOSIDASE; GLYCOSPHINGOLIPID;

CELL VACUOLE; FABRY DISEASE; GENETICS; HUMAN; KIDNEY; METABOLISM; MUTATION; NOTE; PATHOLOGY; PATHOPHYSIOLOGY;

ALPHA-GALACTOSIDASE; FABRY DISEASE; GLYCOSPHINGOLIPIDS; HUMANS; KIDNEY; MUTATION; VACUOLES;

EID: 0034244406     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.39.601     Document Type: Article

References (11)

1. Desnick R.J., Ioannou Y.A., Eng C.M. Alpha-galactosidase A dificiency: Fabry disease, in: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., Eds. The Metabolic and Molecular Basis of Inherited Disease, 7th ed, McGraw-Hill, New York, 1995: 2741–2784.
2. Calhoun D.H., Bishop D.F., Bernstein H.S., Quinn M., Hantzopoulos P., Desnick R.J. Fabry disease: isolation of a cDNA clone eoncoding human alpha-galactosidase A. Proc Natl Acad Sci USA 82: 7364–7368, 1985.
3. Gubler M.C., Lenoir G., Grunfeld J.P., Ulmann A., Droz D., Habib R. Early renal changes in hemizygous and heterozygous patients with Fabry’s disease. Kidney Int 13: 223-235, 1978.
4. Burkholder P.M., Updike S.J., Ware R.A., Reese O.G. Clinicopathologic, enzymatic and genetic features in a case of Fabry’s disease. Arch Pathol Lab Med 104: 17–25, 1980.
5. Shirai T., Ohtake T., Kimura M., et al. Atypical Fabry’s disease presenting with cholesterol crystal embolization. Intern Med 39: 646–649, 2000.
6. Spycher M.A. Electron microscopy: a method for the diagnosis of inherited metabolic storage diseases. Electron microscopy in diagnosis. Pathol Res Pract 167: 118–135, 1980.
7. Wise D., Wallace H.J., Jellinek E.H. Angiokeratoma corporis diffusum: A clinical study of eight affected families. Quart J Med 31: 177–206, 1962.
8. Brady R.O., Tallman J.F., Johnson W.G., et al. Replacement therapy for inherited enzyme deficiency; Use of purified ceramide trihexosidase in Fabry’s disease. N Engl J Med 289: 9–14, 1973.
9. Desnick R.J., Dean K.J., Grabowski G.A., Bishop D.F., Sweeley C.C. Enzyme therapy XII. Enzyme therapy in Fabry’s diasese. differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes. Proc Natl Acad Sci USA 76: 5326–5330, 1979.
10. Desnick R.J., Simmons R.L., Allen K.Y., et al. Correction of enzymatic deficiencies by renal transplantation: Fabry’s diseases Surgery 72: 203–211, 1972.
11. Mosnier J.F., Degott C., Bedrossian J., et al. Recurrence of Fabry’s disease in a renal allograft eleven years after successful renal transplantation. Transplantation 51: 759–762, 1991.