Fabry Disease
Mostrando 1-12 de 90 artigos, teses e dissertações.
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1. Recommendations for the diagnosis and management of Fabry disease in pediatric patients: a document from the Rare Diseases Committee of the Brazilian Society of Nephrology (Comdora-SBN)
Resumo A doença de Fabry (DF) é uma doença genética, com herança ligada ao cromossomo X, devido a variantes no gene GLA que codifica a enzima α-galactosidase A (α-GAL). O propósito do presente estudo foi criar um consenso objetivando padronizar as recomendações em relação ao acometimento renal da DF com orientações sobre o diagnóstico, rastrea
Brazilian Journal of Nephrology. Publicado em: 2022
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2. Brazilian consensus recommendations for the diagnosis, screening, and treatment of individuals with fabry disease: Committee for Rare Diseases - Brazilian Society of Nephrology/2021
Resumo A doença de Fabry (DF) é uma doença genética, com herança ligada ao cromossomo X, que ocorre devido a variantes no gene GLA que codifica a enzima α-galactosidase A (α-GAL). O propósito do presente estudo foi criar um consenso objetivando padronizar as recomendações em relação ao acometimento renal da DF com orientações sobre o diagnósti
Brazilian Journal of Nephrology. Publicado em: 2022
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3. Fabry disease: genetics, pathology, and treatment
SUMMARY Fabry disease (FD) is a recessive monogenic inheritance disease linked to chromosome X, secondary to mutations in the GLA gene. Its prevalence is estimated between 1:8,454 and 1:117,000 among males and is probably underdiagnosed. Mutations in the GLA gene lead to the progressive accumulation of globotriaosylceramide (Gb3). Gb3 accumulates in lysosome
Rev. Assoc. Med. Bras.. Publicado em: 13/01/2020
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4. Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients
Abstract Background: Fabry disease (FD) is an X-linked lysosomal disorder due to mutations in the GLA gene resulting in defective enzyme alpha-galactosidase A. FD patients are frequently misdiagnosed, commonly for rheumatic diseases. Determining pathogenicity of a mutation depends of in silico predictions but mostly on available clinical information and int
Adv. rheumatol.. Publicado em: 13/01/2020
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5. Description of a New GLA Gene Variant in a Patient with Hypertrophic Cardiomyopathy. Is it Fabry Disease?
Arq. Bras. Cardiol.. Publicado em: 08/08/2019
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6. Identification and Clinical Characterization of a Novel Alpha-Galactosidase A Mutation
Abstract Fabry disease (FD) is an inborn error of metabolism characterized by deficient/absent activity of lysosomal enzyme alpha-galactosidase A, which results in systemic accumulation of glycosphingolipids and progression to renal failure, heart and cerebrovascular disease, and small-fiber peripheral neuropathy. This article describes a Brazilian family af
J. inborn errors metab. screen.. Publicado em: 15/07/2019
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7. GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease?
Resumo Fundamento: A doença de Fabry (DF) é uma doença de armazenamento lisossômico ligada ao cromossomo X, devido a mutações no gene da alfa galactosidase A (GLA), levando a deficiência enzimática de alfa-galactosidase (α-Gal A) e acúmulo de globotriaosilceramida (Gb3) e globotriaosilsulfingosina (liso-Gb3), causando disfunção de múltiplos ó
Arq. Bras. Cardiol.. Publicado em: 10/07/2019
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8. The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New Learnings
Abstract The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to accumulation of its substrate globotriaosylceramide. Diagnosis of FD starts with clinical suspici
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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9. In vitro effect of globotriaosylceramide on electron transport chain complexes and redox parameters
Abstract: Fabry disease (FD) is an X-linked inherited disease and occurs due to mutations in GLA gene that encodes the α-galactosidase enzyme. Consequently, there is an accumulation of enzyme substrates, namely globotriaosylceramide (GB3). FD is a multisystemic disease, caused by storage of GB3 in vascular endothelia, with significant renal, cardiac and vas
An. Acad. Bras. Ciênc.. Publicado em: 19/06/2019
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10. The Kidney in Fabry Disease: More Than Mere Sphingolipids Overload
Abstract Fabry disease is a rare cause of end-stage renal disease. Renal pathology is notable for diffuse deposition of glycosphingolipid in the renal glomeruli, tubules, and vasculature. Classical patients with mutations in the α-galactosidase A gene accumulate globotriaosylceramide and become symptomatic in childhood with pain, gastrointestinal disturbanc
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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11. Cardiac Manifestation of Fabry Disease: From Hypertrophic Cardiomyopathy to Early Diagnosis and Treatment in Patients Without Left Ventricular Hypertrophy
Abstract Although Fabry disease was identified a century ago, it is still a challenging condition to diagnose and treat. Registries data suggest that at least 10% of patients may first present with a cardiac event and that cardiac disease is 1 of the 3 major causes of morbidity and mortality in affected males and females. Cardiac involvement in Fabry disease
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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12. A 15-Year Perspective of the Fabry Outcome Survey
Abstract The Fabry Outcome Survey (FOS) is an international long-term observational registry sponsored by Shire for patients diagnosed with Fabry disease who are receiving or are candidates for therapy with agalsidase alfa (agalα). Established in 2001, FOS provides long-term data on agalα safety/efficacy and collects data on the natural history of Fabry di
J. inborn errors metab. screen.. Publicado em: 30/05/2019