Literature DB >> 23430525

Fabry disease in latin america: data from the fabry registry.

J Villalobos1, J M Politei, A M Martins, G Cabrera, H Amartino, R Lemay, S Ospina, S Suarez Ordoñez, C Varas.   

Abstract

The purpose of these analyses was to characterize demographic and baseline clinical characteristics of Latin American patients with Fabry disease compared to that of patients in the rest of the world. Observational data reported to the Fabry Registry were obtained from untreated patients or prior to treatment with enzyme replacement therapy. As of October 1, 2010, 3,752 patients were enrolled in the Fabry Registry worldwide, including 333 patients within Latin America. Latin American patients tended to be younger than Fabry Registry patients enrolled in the rest of the world: mean current age 35.5 years versus 39.2 years for men (p < 0.05 by t-test), mean age 37.8 years versus 43.6 years for women (p < 0.05 by t-test). A smaller percentage of Latin American patients have received enzyme replacement therapy, compared to patients in the rest of the world: 67% versus 80% for men, and 19% versus 39% of women, respectively. Thirty-one percent of men and 22% of women in Latin America reported experiencing a significant cardiovascular, renal, or cerebrovascular event, at a mean age of 35 ± 12.6 years in men and 44 ± 12.3 years in women. Cardiovascular events were the most common type of initial clinical event among men and women in Latin America. The medical community in Latin America should be aware of Fabry disease as a possible cause of renal or cardiac dysfunction. Increased awareness will facilitate prompt diagnosis and initiation of treatment.

Entities:  

Year:  2012        PMID: 23430525      PMCID: PMC3565622          DOI: 10.1007/8904_2012_165

Source DB:  PubMed          Journal:  JIMD Rep        ISSN: 2192-8304


  25 in total

1.  Fabry disease: enzymatic diagnosis in dried blood spots on filter paper.

Authors:  N A Chamoles; M Blanco; D Gaggioli
Journal:  Clin Chim Acta       Date:  2001-06       Impact factor: 3.786

2.  Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.

Authors:  Mary H Branton; Raphael Schiffmann; Sharda G Sabnis; Gary J Murray; Jane M Quirk; Gheona Altarescu; Lev Goldfarb; Roscoe O Brady; James E Balow; Howard A Austin Iii; Jeffrey B Kopp
Journal:  Medicine (Baltimore)       Date:  2002-03       Impact factor: 1.889

Review 3.  Anderson-Fabry disease: extrarenal, neurologic manifestations.

Authors:  Edwin H Kolodny; Gregory M Pastores
Journal:  J Am Soc Nephrol       Date:  2002-06       Impact factor: 10.121

4.  Agalsidase-beta therapy for advanced Fabry disease: a randomized trial.

Authors:  Maryam Banikazemi; Jan Bultas; Stephen Waldek; William R Wilcox; Chester B Whitley; Marie McDonald; Richard Finkel; Seymour Packman; Daniel G Bichet; David G Warnock; Robert J Desnick
Journal:  Ann Intern Med       Date:  2006-12-18       Impact factor: 25.391

5.  Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency.

Authors:  R O Brady; A E Gal; R M Bradley; E Martensson; A L Warshaw; L Laster
Journal:  N Engl J Med       Date:  1967-05-25       Impact factor: 91.245

6.  Ophthalmological manifestations of Fabry disease: a survey of patients at the Royal Melbourne Fabry Disease Treatment Centre.

Authors:  Thanh T Nguyen; Trevor Gin; Kathy Nicholls; Michael Low; Jason Galanos; Andrew Crawford
Journal:  Clin Exp Ophthalmol       Date:  2005-04       Impact factor: 4.207

7.  Enzyme replacement therapy in Fabry disease: a randomized controlled trial.

Authors:  R Schiffmann; J B Kopp; H A Austin; S Sabnis; D F Moore; T Weibel; J E Balow; R O Brady
Journal:  JAMA       Date:  2001-06-06       Impact factor: 56.272

8.  Quality of life of patients with Fabry disease.

Authors:  K F Gold; G M Pastores; M F Botteman; J M Yeh; S Sweeney; W Aliski; C L Pashos
Journal:  Qual Life Res       Date:  2002-06       Impact factor: 4.147

9.  Prevalence of lysosomal storage disorders.

Authors:  P J Meikle; J J Hopwood; A E Clague; W F Carey
Journal:  JAMA       Date:  1999-01-20       Impact factor: 56.272

10.  Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation.

Authors:  David G Warnock; Alberto Ortiz; Michael Mauer; Gabor E Linthorst; João P Oliveira; Andreas L Serra; László Maródi; Renzo Mignani; Bojan Vujkovac; Dana Beitner-Johnson; Roberta Lemay; J Alexander Cole; Einar Svarstad; Stephen Waldek; Dominique P Germain; Christoph Wanner
Journal:  Nephrol Dial Transplant       Date:  2011-07-29       Impact factor: 5.992

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  4 in total

Review 1.  Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry.

Authors:  Michael Beck; Uma Ramaswami; Elizabeth Hernberg-Ståhl; Derralynn A Hughes; Christoph Kampmann; Atul B Mehta; Kathleen Nicholls; Dau-Ming Niu; Guillem Pintos-Morell; Ricardo Reisin; Michael L West; Jörn Schenk; Christina Anagnostopoulou; Jaco Botha; Roberto Giugliani
Journal:  Orphanet J Rare Dis       Date:  2022-06-20       Impact factor: 4.303

2.  L-Acetylcarnitine causes analgesia in mice modeling Fabry disease by up-regulating type-2 metabotropic glutamate receptors.

Authors:  Francesco Formaggio; Roberto Rimondini; Cecilia Delprete; Leonardo Scalia; Emilio Merlo Pich; Rocco Liguori; Ferdinando Nicoletti; Marco Caprini
Journal:  Mol Pain       Date:  2022 Jan-Dec       Impact factor: 3.395

3.  A first description of the Colombian national registry for rare diseases.

Authors:  Heidi Eliana Mateus; Ana María Pérez; Martha Lucía Mesa; Germán Escobar; Jubby Marcela Gálvez; José Ivo Montaño; Martha Lucía Ospina; Paul Laissue
Journal:  BMC Res Notes       Date:  2017-10-26

4.  The clinical profiles of female patients with Fabry disease in Latin America: A Fabry Registry analysis of natural history data from 169 patients based on enzyme replacement therapy status.

Authors:  Ana M Martins; Gustavo Cabrera; Fernando Molt; Fernando Suárez-Obando; Régulo A Valdés; Carmen Varas; Meng Yang; Juan M Politei
Journal:  JIMD Rep       Date:  2019-08-05
  4 in total

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