American Journal of Kidney Diseases
Volume 51, Issue 5 , Pages 767-776 , May 2008

Renal Biopsy Findings in Children and Adolescents With Fabry Disease and Minimal Albuminuria

  • Camilla Tøndel, MD

      Affiliations

    • Department of Pediatrics, Haukeland University Hospital, Bergen, Norway
    • Corresponding Author InformationAddress correspondence to Camilla Tøndel, MD, Department of Pediatrics, Haukeland University Hospital, N-5021 Bergen, Norway.
  • ,
  • Leif Bostad, MD

      Affiliations

    • Department of Pathology, Haukeland University Hospital, Bergen, Norway
    • Institute of Gade, University of Bergen, Bergen, Norway
  • ,
  • Asle Hirth, MD

      Affiliations

    • Institute of Clinical Medicine, University of Bergen, Bergen, Norway
    • Department of Heart Disease, Haukeland University Hospital, Bergen, Norway
  • ,
  • Einar Svarstad, MD, PhD

      Affiliations

    • Medical Department, Haukeland University Hospital, Bergen, Norway
    • Institute of Medicine, University of Bergen, Bergen, Norway.

Received 1 August 2007 ,Accepted 11 December 2007.

References 

  1. Gubler MC, Lenoir G, Grunfeld JP, Ulmann A, Droz D, Habib R. Early renal changes in hemizygous and heterozygous patients with Fabry's disease. Kidney Int. 1978;13:223–235
  2. Desnick RJ, Brady RO. Fabry disease in childhood. J Pediatr. 2004;144(suppl 5):S20–S26
  3. Ries M, Clarke JT, Whybra C, et al. Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics. 2006;118:924–932
  4. Ries M, Ramaswami U, Parini R, et al. The early clinical phenotype of Fabry disease: A study on 35 European children and adolescents. Eur J Pediatr. 2003;162:767–772
  5. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet. 2001;38:750–760
  6. Ramaswami U, Wendt S, Pintos-Morell G, et al. Enzyme replacement therapy with agalsidase alfa in children with Fabry disease. Acta Paediatr. 2007;96:122–127
  7. Germain D, Waldek S, Banikazemi M, et al. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol. 2007;18:1368–1370
  8. Sessa A, Meroni M, Battini G, et al. Renal involvement in Anderson-Fabry disease. J Nephrol. 2003;16:310–313
  9. Thurberg BL, Rennke H, Colvin RB, et al. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int. 2002;62:1933–1946
  10. Breunig F, Weidemann F, Strotmann J, Knoll A, Wanner C. Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney Int. 2006;69:1216–1221
  11. Tøndel C, Laegreid LM, Hirth A, et al. Intravenous enzyme substitution therapy in children with Fabry's disease. Tidsskr Nor Laegeforen. 2003;123:3388–3390
  12. Lang RM, Bierig M, Devereux RB, et al. Recommendations for chamber quantification: A report from the American Society of Echocardiography's Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology. J Am Soc Echocardiogr. 2005;18:1440–1463
  13. de Simone G, Devereux RB, Daniels SR, Koren MJ, Meyer RA, Laragh JH. Effect of growth on variability of left ventricular mass: Assessment of allometric signals in adults and children and their capacity to predict cardiovascular risk. J Am Coll Cardiol. 1995;25:1056–1062
  14. Svarstad E, Iversen BM, Bostad L. Bedside stereomicroscopy of renal biopsies may lead to a rapid diagnosis of Fabry's disease. Nephrol Dial Transplant. 2004;19:3202–3203
  15. Elleder M. Sequelae of storage in Fabry disease—Pathology and comparison with other lysosomal storage diseases. Acta Paediatr Suppl. 2003;92:S46–S53discussion, S45
  16. Tahir H, Jackson LL, Warnock DG. Antiproteinuric therapy and Fabry nephropathy: Sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta. J Am Soc Nephrol. 2007;18:2426–2428
  17. Pierrat A, Gravier E, Saunders C, et al. Predicting GFR in children and adults: A comparison of the Cockcroft-Gault, Schwartz, and Modification of Diet in Renal Disease formulas. Kidney Int. 2003;64:1425–1436
  18. Grubb A, Nyman U, Bjork J, et al. Simple cystatin C-based prediction equations for glomerular filtration rate compared with the Modification of Diet in Renal Disease prediction equation for adults and the Schwartz and the Counahan-Barratt prediction equations for children. Clin Chem. 2005;51:1420–1431
  19. Elleder M, Poupetova H, Kozich V. [Fetal pathology in Fabry's disease and mucopolysaccharidosis type I]. Cesk Patol. 1998;34:7–12
  20. Raas-Rothschild A, Friedlaender MM, Pizov G, Backenroth R. The kidney in Fabry disease. J Pediatr. 2005;146:148
  21. Ramaswami U, Whybra C, Parini R, et al. Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey. Acta Paediatr. 2006;95:86–92
  22. Ries M, Gupta S, Moore DF, et al. Pediatric Fabry disease. Pediatrics. 2005;115:e344–e355
  23. Shahinfar S, Dickson T, Zhang Z, Keane WF, Brenner BM. Baseline predictors of end-stage renal disease risk in patients with type 2 diabetes and nephropathy: New lessons from the RENAAL Study. Kidney Int Suppl. 2005;S48–S51
  24. Banikazemi M, Bultas J, Waldek S, et al. Agalsidase-beta therapy for advanced Fabry disease: A randomized trial. Ann Intern Med. 2007;146:77–86
  25. Hughes DA, Elliott PM, Shah J, et al. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: A randomized, double-blind, placebo-controlled clinical trial of agalsidase-alfa. Heart. 2008;94:153–158
  26. Linhart A, Kampmann C, Zamorano JL, et al. Cardiac manifestations of Anderson-Fabry disease: Results from the international Fabry Outcome Survey. Eur Heart J. 2007;28:1228–1235

 Originally published online as doi:10.1053/j.ajkd.2007.12.032 on March 20, 2008.

PII: S0272-6386(08)00066-8

doi: 10.1053/j.ajkd.2007.12.032

American Journal of Kidney Diseases
Volume 51, Issue 5 , Pages 767-776 , May 2008