Fabry disease with proteinuric nephropathy and hypertrophic cardiomyopathy, misinterpreted as chronic glomerulonephritis in Schonlein-Henoch purpura


Cite item

Full Text

Abstract

A patient with Fabry disease - nephropathy with proteinuria, hypertrophic cardiomyopathy and cutaneous angiokeratomas - is described. Initially, Schonlein-Henoch purpura was misdiagnosed, that lead to subsequent inadequate use of corticosteroids and cytostatic agents

References

  1. Breunig F., Wanner C. Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy. J Nephrol 2008; 21(1): 32-37
  2. Eng C.M., Fletcher J., Wilcox W.R., et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 2007; 30(2): 184-192
  3. Eng C.M., Germain D.P., Banikazemi M., et al. Fabru disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006; 8(9): 539-548
  4. Hoffmann B., Schwarz M., Mehta A., Keshav S; Fabry Outcome Survey European Investigators. Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin. Gastroenterol. Hepatol. 2007; 5(12): 1447-1453
  5. MacDermot K.D., Holmes A., Miners A. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J. Med. Genet. 2001; 38: 769-775
  6. Banikazemi M., Ullman T., Desnick R.J. Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy. Mol. Genet. Metab. 2005; 85(4): 255-259
  7. Möhrenschlager M., Braun-Falco M., Ring J., Abeck D. Fabry disease: recognition and management of cutaneous manifestations. Am. J. Clin. Dermatol. 2003; 4(3): 189-196
  8. Zarate Y., Hopkin R.J. Fabry's disease. Lancet 2008; 372: 1427 - 1435
  9. Orteu C.H., Jansen T., Lidove O. et al. FOS Investigators. Fabry disease and the skin: data from FOS, the Fabry outcome survey. Br. J. Dermatol. 2007; 157(2): 331-337
  10. Fauchais A.L., Prey S., Outara B., et al. Angiokeratoma regression in a Fabry disease after treatment with agalsidase-beta: clinical effectiveness marker? J. Eur. Acad. Dermatol. Venereol. 2010; 24(6): 737-738
  11. Cimaz R., Guillaume S., Hilz M.J. et al. Awareness of Fabry disease among rheumatologists-current status and perspectives. Clin. Rheumatol. 2010 Apr 15. [Epub ahead of print]
  12. Ries M., Moore D.F., Robinson C.J. et al. Quantative dysmorphology assessment in Fabry disease. Genet. Med. 2006; 8: 96-101
  13. Oqvist B., Brenner B.M., Olivieira J.P. et al. Nephropathy in Fabry disease: the importance of early diagnosis and testing in high-risk populations. Nephrol. Dial. Transplant. 2009; 24: 1736 - 1743
  14. Schiffmann R., Warnock D.G.., Banikazemi M. et al. Fabry disease: progression of nepnropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol. Dial. Transplant. 2009; 24: 2102 - 2111
  15. Ortiz A., Oliviero J.P., Waldek S. et al. Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrol. Dial. Transplant. 2008; 23: 1600 - 1607
  16. Fogo A.B., Bostad L., Svarstad E. et al. Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISFGN). Nephrol. Dial. Transplant. 2010; 25(7): 2168-2177
  17. Giannini E.H., Mehta A.B., Hilz M.J. et al. A validated disease severity scoring system for Fabry disease. Mol. Genet. Metab. 2010; 99: 283 - 290
  18. Nakao S., Kodama C., Takenaka T. et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int. 2003; 64(3): 801-807
  19. Kotanko P., Kramar R., Devrnja D. et al. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J. Am. Soc. Nephrol. 2004; 15(5): 1323-1329
  20. Ichinose M., Nakayama M., Ohashi T. et al. Significance of screening for Fabry disease among male dialysis patients. Clin. Exp. Nephrol. 2005; 9(3): 228-232
  21. Tanaka M., Ohashi T., Kobayashi M. et al. Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients. Clin. Nephrol. 2005; 64(4): 281-287
  22. Lucke T., Hoppner W., Schmidt E. et al. Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts. Mol. Genet. Metab. 2004; 82: 93 - 97
  23. Shen J.S., Meng X.L., Moore D.F. et al. Globotriasylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. Mol. Genet. Metab. 2008; 95: 163 - 168
  24. Barbey F., Brakch N., Linhart A. et al. Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition. Arterioscler. Thromb. Vasc. Biol. 2006; 26: 839 - 844
  25. Linhart A., Kampmann C., Zamorano C.J. et al. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry Outcome Survey. Eur. Heart J. 2007; 28: 1228 - 1235
  26. Monserrat L., Gimeno-Blanes J.R., Marín F. et al. Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 2007; 50(25): 2399-2403
  27. Nakao S., Takenata T., Maeda M. et al. An atypical variant of Fabry's disease in men with left venticular hypertrophy. N. Engl. J. Med. 1995; 333: 288 - 293
  28. Sachdev B., Takenaka T., Maeda M. et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002; 105: 1407-1411
  29. Chimenti C., Pieroni M., Morgante E. et al. Prevalence of Fabry disease in female patients with late-onset hypertrophic cadiomyopathy. Circulation. 2004; 110: 1047 - 1053
  30. Ommen S.R., Nishimura R.A., Edwards W.D. Fabry disease: a mimic for obstructive hypertrophic cardiomyopathy? Heart 2003; 89: 929 - 930
  31. Weidemann F., Linhart A., Monserrat L., Strotmann J. Cardiac challenges in patients with Fabry disease. Int. J. Cardiol. 2010; 141(1): 3-10
  32. Kampmann C., Linhart A., Baehner F. et al. Onset and progression of the Anderson-Fabry disease related cardiomyopathy. Int. J. Cardiol. 2008; 130(3): 367-373
  33. Pierre-Louis B., Kumar A., Frishman W.H. Fabry disease. Cardiac manifestations and therapeutic options. Cardiol. Rev. 2009; 17: 31 - 35
  34. Kouris N.T., Kontogianni D.D., Pavlou M.T., Babalis D.K. Atrioventricular conduction disturbances in a young patient with Fabry's disease without other signs of cardiac involvement. Int. J. Cardiol. 2005; 99(2): 327-328
  35. Efthimiou J., McLelland J., Betteridge D.J. Short PR intervals and tachyarrhythmias in Fabry's disease. Postgrad. Med. J. 1986; 62(726): 285-287
  36. Hoigné P., Attenhofer Jost C.H., Duru F. et al. Simple criteria for differentiation of Fabry disease from amyloid heart disease and other causes of left ventricular hypertrophy. Int. J. Cardiol. 2006; 111(3): 413-422
  37. Joshi S.B., Ahmar W., Lee G., Aggarwal A. Fabry's disease presenting as ventricular tachycardia and left ventricular 'hypertrophy'. Eur. J. Echocardiogr. 2008; 9(5): 697-679
  38. Doi Y., Toda G., Yano K. Sisters with atypical Fabry's disease with complete atrioventricular block. Heart. 2003; 89(1): e2
  39. Ikari Y., Kuwako K., Yamaguchi T. Fabry's disease with complete atrioventricular block: histological evidence of involvement of the conduction system. Br. Heart J. 1992; 68(3): 323-325
  40. Ikari Y., Kuwako K., Yamaguchi T. Fabry's disease with complete atrioventricular block: histological evidence of involvement of the conduction system. Br. Heart J. 1992; 68(3): 323-325
  41. Благова О.В., Заклязьминская Е.В., Недоступ А.В. и др. Случай болезни Фабри глазами кардиолога и генетика. Кардиология 2009; 5: 54-58
  42. Shah J.S., Hughes D.A., Sachdev B. et al. Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. Am. J. Cardiol. 2005; 96(6): 842-846
  43. Sims K., Politei J., Banikazemi M., Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke. 2009; 40(3): 788-794
  44. Rolfs A., Böttcher T., Zschiesche M. et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet. 2005; 366(9499): 1794-1796
  45. Vibert D., Blaser B., Ozdoba C., Häusler R. Fabry's disease: otoneurologic findings in twelve members of one family. Ann. Otol. Rhinol. Laryngol. 2006; 115(6): 412-418
  46. Germain D.P., Avan P., Chassaing A., Bonfils P. Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients. BMC Med. Genet. 2002; 3: 10
  47. Conti G., Sergi B. Auditory and vestibular findings in Fabry disease: a study of hemizygous males and heterozygous females. Acta Paediatr. Suppl. 2003; 92(443): 33-37
  48. Cimaz R., Guillaume S., Hilz M.J. et al. Awareness of Fabry disease among rheumatologists - current status and perspectives. Clin. Rheumatol. 2010 [Epub ahead of print]
  49. Schaefer R.M., Tylki-Szymanska A., Hilz M.J. Enzyme replacement therapy for Fabry disease: a systematic review of available evidence. Drugs 2009; 69(16): 2179 - 2205
  50. 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. 2007; 75: 65 - 74
  51. Germain D.P., Waldek S., Banikazemi M., et al. Sustained, long-term renal stabilization after 54 moths of agalsidase β therapy in patients with Fabry disease. J. Am. Soc. Nephrol. 2007; 18: 1547 - 1557
  52. Banikazemi M., Bultas J., Waldeck S. et al. Agalsidase-beta therapy for advanced Fabry disease. A randomized trial. Ann. Intern. Med. 2007; 146: 77 - 86
  53. Wraith J.E., Tylki-Szymanska A., Guffon N. et al. Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J. Pediatr. 2008; 152: 563 - 570
  54. Watt T., Burlina A.P., Cazzorla C. et al. Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: Findings from the Fabry Registry. Genet Med. 2010 Sep 29. [Epub ahead of print]
  55. Imbriaco M., Pisani A., Spinelli L. et al. Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: a prospective long-term cardiac magnetic resonance imaging study. Heart. 2009; 95(13): 1103-1107
  56. Spinelli L., Pisani A., Sabbatini M. et al. Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease. Clin. Genet. 2004; 66(2): 158-165
  57. Weidemann F., Niemann M., Breunig F. et al. Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation. 2009; 119(4): 524-529
  58. Tahir H., Jackson L.L., Warnock D.G. Antiproteinuric therapy and fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta. J. Am. Soc. Nephrol. 2007; 18(9): 2609-2617
  59. Ortiz A., Oliveira J.P., Wanner C. et al. Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults. Nat. Clin. Pract. Nephrol. 2008; 4(6): 327-336

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies