Histologic and electron microscopy findings in myocardium of treated Fabry disease

Human Pathology

Volumn 37, Issue 6, 2006, Pages 764-768

  Owens, Christopher L ^a   Russell, Stuart D ^a   Halushka, Marc K ^a  

^a DEPARTMENT OF PATHOLOGY   (United States)

Author keywords

Electron microscopy; Fabrazyme; Fabry disease; Heart

Indexed keywords

ADULT; ANAMNESIS; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CLINICAL FEATURE; ELECTRON MICROSCOPY; FABRY DISEASE; HEART FAILURE; HEART MUSCLE; HEART MUSCLE BIOPSY; HISTOLOGY; HUMAN; LYSOSOME; MALE; MUSCLE CELL;

ALPHA-GALACTOSIDASE; BIOPSY; FABRY DISEASE; FOLLOW-UP STUDIES; HEART FAILURE, CONGESTIVE; HUMANS; ISOENZYMES; MALE; MIDDLE AGED; MYOCARDIUM; MYOCYTES, CARDIAC; TIME FACTORS; TREATMENT OUTCOME;

EID: 33745433096     PISSN: 00468177     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.humpath.2006.01.021     Document Type: Article

References (20)

1. Brady R.O., Gal A.E., Bradley R.M., Martensson E., Warshaw A.L., and Laster L. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med 276 (1967) 1163-1167
2. Broadbent J.C., Edwards W.D., Gordon H., Hartzler G.O., and Krawisz J.E. Fabry cardiomyopathy in the female confirmed by endomyocardial biopsy. Mayo Clin Proc 56 (1981) 623-628
3. Germain D.P. Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects. J Soc Biol 196 (2002) 161-173
4. Elleder M. Sequelae of storage in Fabry disease-pathology and comparison with other lysosomal storage diseases. Acta Paediatr Suppl 92 (2003) 46-53 [discussion 45]
5. Desnick R.J., Brady R., Barranger J., et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138 (2003) 338-346
6. Lee K., Jin X., Zhang K., et al. A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology 13 (2003) 305-313
7. Eng C.M., Guffon N., Wilcox W.R., et al. Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med 345 (2001) 9-16
8. Whitfield P.D., Calvin J., Hogg S., et al. Monitoring enzyme replacement therapy in Fabry disease-role of urine globotriaosylceramide. J Inherit Metab Dis 28 (2005) 21-33
9. Ferrans V.J., Hibbs R.G., and Burda C.D. The heart in Fabry's disease. A histochemical and electron microscopic study. Am J Cardiol 24 (1969) 95-110
10. Spinelli L., Pisani A., Sabbatini M., et al. Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease. Clin Genet 66 (2004) 158-165
11. Mignani R., and Cagnoli L. Enzyme replacement therapy in Fabry's disease: recent advances and clinical applications. J Nephrol 17 (2004) 354-363
12. Weidemann F., Breunig F., Beer M., et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation 108 (2003) 1299-1301
13. Beck M., Ricci R., Widmer U., et al. Fabry disease: overall effects of agalsidase alfa treatment. Eur J Clin Invest 34 (2004) 838-844
14. Wilcox W.R., Banikazemi M., Guffon N., et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 75 (2004) 65-74
15. Sifers R.N., Mayes J.S., and Nordquist R.E. Loss of electron-dense lamellar material from Fabry's disease fibroblasts after enzyme replacement. Hum Genet 65 (1983) 85-87
16. Ioannou Y.A., Zeidner K.M., Gordon R.E., and Desnick R.J. Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice. Am J Hum Genet 68 (2001) 14-25
17. Thurberg B.L., Rennke H., Colvin R.B., et al. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 62 (2002) 1933-1946
18. Thurberg B.L., Randolph Byers H., Granter S.R., Phelps R.G., Gordon R.E., and O'Callaghan M. Monitoring the 3-year efficacy of enzyme replacement therapy in Fabry disease by repeated skin biopsies. J Invest Dermatol 122 (2004) 900-908
19. Brooks S.E., and Audretsch J.J. Ultrastructural diagnosis of Gaucher's disease with negative-staining technique. Arch Pathol 95 (1973) 226-228
20. Vincent Jr. R.A., and Spicer S.S. Giant dense bodies in fibroblasts cultured from beige mice with the Chediak-Higashi syndrome. Am J Pathol 105 (1981) 270-278