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Brazilian consensus recommendations for the diagnosis, screening, and treatment of individuals with fabry disease: Committee for Rare Diseases - Brazilian Society of Nephrology/2021

Fabry disease (FD) is an X-linked inherited disorder caused by mutations in the GLA gene encoding enzyme alpha-galactosidase A (α-Gal A). The purpose of this study was to produce a consensus statement to standardize the recommendations concerning kidney involvement in FD and provide advice on the di...

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Autores principales: Silva, Cassiano Augusto Braga, de Andrade, Luis Gustavo Modelli, Vaisbich, Maria Helena, Barreto, Fellype de Carvalho
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Nefrologia 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9269181/
https://www.ncbi.nlm.nih.gov/pubmed/35212703
http://dx.doi.org/10.1590/2175-8239-JBN-2021-0208
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author Silva, Cassiano Augusto Braga
de Andrade, Luis Gustavo Modelli
Vaisbich, Maria Helena
Barreto, Fellype de Carvalho
author_facet Silva, Cassiano Augusto Braga
de Andrade, Luis Gustavo Modelli
Vaisbich, Maria Helena
Barreto, Fellype de Carvalho
author_sort Silva, Cassiano Augusto Braga
collection PubMed
description Fabry disease (FD) is an X-linked inherited disorder caused by mutations in the GLA gene encoding enzyme alpha-galactosidase A (α-Gal A). The purpose of this study was to produce a consensus statement to standardize the recommendations concerning kidney involvement in FD and provide advice on the diagnosis, screening, and treatment of adult and pediatric patients. This consensus document was organized from an initiative led by the Committee for Rare Diseases (Comdora) of the Brazilian Society of Nephrology (SBN). The review considered randomized clinical trials, real-world data studies, and the expertise of its authors. The purpose of this consensus statement is to help manage patient and physician expectations concerning the outcomes of treatment. Our recommendations must be interpreted within the context of available evidence. The decisions pertaining to each individual case must be made with the involvement of patients and their families and take into account not only the potential cost of treatment, but also concurrent conditions and personal preferences. The Comdora intends to update these recommendations regularly so as to reflect recent literature evidence, real-world data, and appreciate the professional experience of those involved. This consensus document establishes clear criteria for the diagnosis of FD and for when to start or stop specific therapies or adjuvant measures, to thus advise the medical community and standardize clinical practice.
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spelling pubmed-92691812022-07-20 Brazilian consensus recommendations for the diagnosis, screening, and treatment of individuals with fabry disease: Committee for Rare Diseases - Brazilian Society of Nephrology/2021 Silva, Cassiano Augusto Braga de Andrade, Luis Gustavo Modelli Vaisbich, Maria Helena Barreto, Fellype de Carvalho J Bras Nefrol Brazilian Society of Nephrology Fabry disease (FD) is an X-linked inherited disorder caused by mutations in the GLA gene encoding enzyme alpha-galactosidase A (α-Gal A). The purpose of this study was to produce a consensus statement to standardize the recommendations concerning kidney involvement in FD and provide advice on the diagnosis, screening, and treatment of adult and pediatric patients. This consensus document was organized from an initiative led by the Committee for Rare Diseases (Comdora) of the Brazilian Society of Nephrology (SBN). The review considered randomized clinical trials, real-world data studies, and the expertise of its authors. The purpose of this consensus statement is to help manage patient and physician expectations concerning the outcomes of treatment. Our recommendations must be interpreted within the context of available evidence. The decisions pertaining to each individual case must be made with the involvement of patients and their families and take into account not only the potential cost of treatment, but also concurrent conditions and personal preferences. The Comdora intends to update these recommendations regularly so as to reflect recent literature evidence, real-world data, and appreciate the professional experience of those involved. This consensus document establishes clear criteria for the diagnosis of FD and for when to start or stop specific therapies or adjuvant measures, to thus advise the medical community and standardize clinical practice. Sociedade Brasileira de Nefrologia 2022-02-23 2022 /pmc/articles/PMC9269181/ /pubmed/35212703 http://dx.doi.org/10.1590/2175-8239-JBN-2021-0208 Text en https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Brazilian Society of Nephrology
Silva, Cassiano Augusto Braga
de Andrade, Luis Gustavo Modelli
Vaisbich, Maria Helena
Barreto, Fellype de Carvalho
Brazilian consensus recommendations for the diagnosis, screening, and treatment of individuals with fabry disease: Committee for Rare Diseases - Brazilian Society of Nephrology/2021
title Brazilian consensus recommendations for the diagnosis, screening, and treatment of individuals with fabry disease: Committee for Rare Diseases - Brazilian Society of Nephrology/2021
title_full Brazilian consensus recommendations for the diagnosis, screening, and treatment of individuals with fabry disease: Committee for Rare Diseases - Brazilian Society of Nephrology/2021
title_fullStr Brazilian consensus recommendations for the diagnosis, screening, and treatment of individuals with fabry disease: Committee for Rare Diseases - Brazilian Society of Nephrology/2021
title_full_unstemmed Brazilian consensus recommendations for the diagnosis, screening, and treatment of individuals with fabry disease: Committee for Rare Diseases - Brazilian Society of Nephrology/2021
title_short Brazilian consensus recommendations for the diagnosis, screening, and treatment of individuals with fabry disease: Committee for Rare Diseases - Brazilian Society of Nephrology/2021
title_sort brazilian consensus recommendations for the diagnosis, screening, and treatment of individuals with fabry disease: committee for rare diseases - brazilian society of nephrology/2021
topic Brazilian Society of Nephrology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9269181/
https://www.ncbi.nlm.nih.gov/pubmed/35212703
http://dx.doi.org/10.1590/2175-8239-JBN-2021-0208
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