Evaluation of patients with Fabry disease in Argentina;Evaluacion de pacientes con enfermedad de Fabry en la Argentina

Medicina

Volumn 70, Issue 1, 2010, Pages 37-43

  Reisin, Ricardo C ^g   Doxastakis, Griselda ^a   Ferrari, Gustavo ^b   María, Escobar Ana ^b   Kisinovsky, Isaac ^c   Cáceres, Guillermo ^c   Roa, Norma ^c   Bianchi, Silvia ^c   Aguilar, Rubén ^c   Aggio, Mario ^d   Tarabuso, Analía ^e   Peralta, Irma ^f   Nápoli, Gabriel ^g   Pardal, Ana ^g   Marchesoni, Cintia ^g   Neumann, Pablo ^h   Ebner, Roberto ^g   Martínez, Pablo ⁱ   Penna, José ^j   Rozenfeld, Paula ^g  

^a Unidad de Arritmias   (Argentina)

^b HOSPITAL ALEMÁN   (Argentina)

^c Centro Fabry   (Argentina)

^d Instituto Lavalle   (Argentina)

^e CEAL Centro Médico   (Argentina)

^f Centro Fabry   (Argentina)

^g HOSPITAL BRITÁNICO DE BUENOS AIRES   (Argentina)

^h HOSPITAL ITALIANO DE BUENOS AIRES   (Argentina)

ⁱ Hospital Interzonal   (Argentina)

^j NONE

more..

Author keywords

Angiokeratoma; Cornea verticillata; Fabry; Neuropathy; Stroke; Ventricular hypertrophy

Indexed keywords

ADULT; ANHIDROSIS; ARGENTINA; ARTICLE; ASSAULT; CONTROLLED STUDY; CORNEA DISEASE; DISEASE SEVERITY; ENZYME ANALYSIS; ENZYME REPLACEMENT; FABRY DISEASE; FEMALE; GENETIC ANALYSIS; HEART VENTRICLE HYPERTROPHY; HEMANGIOKERATOMA; HUMAN; MAJOR CLINICAL STUDY; MALE; PARESTHESIA; PROTEINURIA; SEX DIFFERENCE; AGED; BLOOD; CORNEA OPACITY; GENETICS; HEART LEFT VENTRICLE HYPERTROPHY; HETEROZYGOTE; HOSPITALIZATION; MIDDLE AGED; MUTATION;

ALPHA GALACTOSIDASE;

ADULT; AGED; ALPHA-GALACTOSIDASE; ANGIOKERATOMA; ARGENTINA; CORNEAL OPACITY; FABRY DISEASE; FEMALE; HETEROZYGOTE; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; MALE; MIDDLE AGED; MUTATION; SEVERITY OF ILLNESS INDEX; SEX FACTORS; YOUNG ADULT;

EID: 77951276301     PISSN: 00257680     EISSN: 16699106     Source Type: Journal    
DOI: None     Document Type: Article

References (56)

1. Anderson W. A case of "angeio-keratoma". Brit J Dermatol 1898; 10: 113-117
2. Fabry J. Ein Beitrag zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae). Arch Dermatol Syph 1898; 43: 187-200.
3. Sweeley CC, Klionsky B. Fabry's disease: classification as a sphingolipidosis and partial characterization of a novel glycolipid. J Biol Chem 963; 238: 3148-3150
4. Aerts J, Groener J, Kuiper S, Donker-Koopman W et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. PNAS 2008; 105: 2812-2817
5. th Ed. New York: McGraw-Hill, 2001; p 3733-3774
6. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal strorage disorders. JAMA 1999; 281: 249-254
7. Spada M, Pagliardini S, Yasuda M, et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet 2006; 79:31-40.
8. Mac Dermot KD, Holmes A, Minners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001; 38: 750-760 (Pubitemid 33032930)
9. Mac Dermot KD, Holmes A, Minners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 2001; 38: 769-775 (Pubitemid 33032933)
10. Lyon MF. Gene action in the X-chromosome of the mouse (Mus musculus L.) Nature 1961; 190: 372-373
11. Schiffmann R, Kopp JB, Austin HA, et al. Enzyme replacement therapy in Fabry diease: a randomized controlled trial. JAMA 2001; 285: 2743-2749
12. Eng C, Guffon N, Wilcox W, et al. Safety and efficacy of recombinant human alfa-galactosidase a replacement therapy in Fabry's disease. N Engl J Med 2001; 345: 9-16.
13. Hollak C, Vedder A, Linthorst G, et al. Novel therapeutic targets for the treatment of Fabry Disease. Expert Opin Ther Targets 2007; 11: 821-833
14. Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004; 34: 236-242
15. Wilcox W, Oliveira J, Robert J, et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 2008; 93: 112-128
16. Rozenfeld P, Tarabuso A, Ebner R, et al. A successful approach for the detection of Fabry patients in Argentina. Clin Genet 2006; 69: 344-348
17. Chamoles N, Blanco M, Gaggioli D. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta 2001; 308: 195-196 (Pubitemid 32537628)
18. Whybra C, Kampmann C, Krummenauer F, et al. The Mainz Severity Score Index: a new instrument for quantifying the Anderson- Fabry disease phenotype, and the response of patients to enzime replacement theraphy. Clin Genet 2004; 65: 299-307.
19. Orteu C, Jansen T, Lidove O, Jaussaud R, et al. Fabry disease and the skin: data from FOS, the Fabry outcome survey. Br J Dermatol 2007; 157: 331-337
20. Möhrenschlager M, Braun Falco M, Ring J, Abeck D. Fabry disease: recognition and management of cutaneous manifestations. Am J Clin Dermatol 2003; 4: 189-196
21. Weicksel J. Angiomatosis or angiokeratosis universalis (a very rare disease of the skin and blood and lymphatic vessels). Deutsch Med Wschr 1925; 51: 898.
22. Grace EV. Diffuse Angiokeratosis (Fabry's Disease). Am J Ophthalmol 1966; 62: 139-145
23. Rahman AN. The ocular manifestation of hereditary dystopic lipidosis. (angiokeratoma corporis diffusum universale) Arch Ophthalmol 1963; 69: 708-716
24. Sodi A, Ioannidis A, Metha A, et al. Ocular manifestations of Fabry's disease: data from the Fabry Outcome Survey. Br J Ophthalmol 2007; 91: 210-214
25. Altarescu G, Moore D, Pursley R, et al. Enhanced endothelium-dependent vasodilation in Fabry disease. Stroke 2001; 32: 1559-1562
26. 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 glycosphyngolipid deposition. Arterioscler, Throm, and Vasc Biol 2006; 26: 839-844
27. Sachdev B, Takenaka T, Teraguchi H, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002; 26: 1407-1411
28. Kampmann C, Linhart A, Baehner F, et al. Onset and progression of the Anderson-Fabry disease related cardiomyopathy. Int J Cardiol 2008; 130: 367-373
29. Linhart A, Kampmann C, Zamorano J, et al. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J 2007; 28: 1228-1235
30. Pieroni M, Chimenti C, De Cobelli F, et al. Fabry's disease cardiomyopathy: echocardiographic detection of endomyocardial glycosphingolipid compartmentalization. J Am Coll Cardiol 2006 47: 1663-1671
31. Kounas S, Demetrescu C, Pantazis A, Keren A. The binary endocardial appearance is a poor discriminator of Anderson-Fabry disease from familial hypertrophic cardiomyopathy. J Am Coll Cardiol 2008; 51: 2058-2061
32. Funabashi N, Toyozaki T, Matsumoto Y, et al. Images in cardiovascular medicine. Myocardial fibrosis in Fabry disea-se demonstrated by multislice computed tomography: comparison with biopsy findings. Circulation 2003; 107: 2519-2520
33. Kirchhof P, Breithardt G, Eckardt L. Primary prevention of sudden cardiac death. Heart 2006; 92: 1873-1878
34. Shah D, Hughes D, Sachdev B, et al. Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. Am J Cardiol 2005; 96: 842-846
35. Aryana A, Fifer M, RuskinJ, Mela T. Short PR interval in the absence of preexcitation: a characteristic finding in a patient with Fabry disease. PACE 2008; 31: 782-783
36. 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.
37. Ries M, Clarcke J, Whybra C, et al. Enzyme-replacement theraphy with agalsidase alfa in children with Fabry disease. Pediatrics 2006; 118: 924-932
38. Reisin R, Marchesoni C, Roa N, et al. Misdiagnosis of Fabry disease. Neurology 2008; 70 S A41.
39. Deegan P, Baehner AF, Barbara-Romero MA, Hughes D et al. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 2006; 43: 347-352
40. Hoffmann B, Beck M, Sunder-Plassmann G, Borsini W, et al. Nature and prevalence of pain in Fabry disease and its response to enzyme replacement theraphy. A retrospective analysis from the Fabry Outcome Surrey. Clin J Pain 2007; 23: 535-542
41. Valeriani M, Mariotti P, Le Pera D, et al. Functional assessment of A delta and C fibers in patients with Fabry's disease. Muscle Nerve 2004; 30:708-713
42. Lacomis D, Roeske-Anderson L, Mathie L. Neuropathy and Fabry's disease. Muscle Nerve 2005; 31: 102-107
43. Schiffmann R, Floeter M, Dambrosia J. et al. Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve 2003; 28: 703-710
44. Birklein F. Mechanisms of neuropathic pain and their importante in Fabry disease. Acta Paediatr 2002; Suppl 439: 34-37
45. Tan SV, Lee PJ, Walters RJ. Evidence for motor axon depolarization in Fabry disease. Muscle Nerve 2005; 32: 548-551
46. Politei JM. Accidente cerebro-vascular en la enfermedad de Fabry. Algo más que una simple estenosis. Medicina (Buenos Aires) 2006; 66: 467-471
47. Reisin R, Nápoli G, Bonardo P, Martinez M, et al. Brain MRI Findings in patients with Fabry disease. Neurology 2007 68 Suppl 1 A 63.
48. Rolfs A, Bottcher T, Zschiesche M, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 2005; 366: 1794-1796
49. Fellgiebel A, Muller M, Ginsberg L. CNS manifestations of Fabry's disease. Lancet Neurol 2006; 5: 791-795
50. Palla A, Hegemann S, Widmer U, Straumann D. Vestibular and auditory deficits in Fabry disease and their response to enzyme replacement therapy. J Neurol 2007; 254: 1433-1442
51. Ries M, Kim H, Zalewski C, Mastroianni M, Moore D. Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease. Brain 2007; 130 (Pt 1): 143-150
52. Thadhani R, Wolf M, West ML, et al. Patients with Fabry disease on dialysis in the United States. Kidney Int 2002; 61: 249-255 (Pubitemid 34075152)
53. Tsakiris D, Simpson HK, Jones EH. Report on mana-gement of renal failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA Registry. Nephrol Dial Transplant 1996; (Suppl 7) 11: S4-20.
54. Ries M, Gupta S, Moore D, Sachdev V et al. Pediatric Fabry disease. Pediatrics 2005; 115: 344-355
55. Neumann P, Martínez P, Rozenfeld P. Manifestaciones nefrológicas de pacientes con Enfermedad de Fabry en Argentina. Revista de Nefrología, Diálisis y Trasplante 2007; 27: 99-102.
56. Dehout F, Schwarting A, Beck M, Mehta A et al. Effects of enzyme replacement therapy with agalsidase alfa on glomerular filtration rate in patients with Fabry disease: preliminary data. Acta Paediatr Suppl. 2003; 92: 14-15