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)

dc.contributor.authorVaisbich, Maria Helena
dc.contributor.authorAndrade, Luís Gustavo Modelli De [UNESP]
dc.contributor.authorSilva, Cassiano Augusto Braga
dc.contributor.authorBarreto, Fellype De Carvalho
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversidade Estadual Paulista (UNESP)
dc.contributor.institutionClínica de Nefrologia Senhor do Bonfim
dc.contributor.institutionUniversidade Federal do Paraná
dc.date.accessioned2022-04-28T16:55:49Z
dc.date.available2022-04-28T16:55:49Z
dc.date.issued2022-02-25
dc.description.abstractFabry disease (FD) is a genetic disease, with X-chromosome linked inheritance, due to variants in the GLA gene that encodes the α-galactosidase A (α-GAL) enzyme. The purpose of the present study was to create a consensus aiming to standardize the recommendations regarding the renal involvement of FD with guidelines on the diagnosis, screening, and treatment of pediatric patients. This consensus is an initiative of the Rare Diseases Committee (Comdora) of the Brazilian Society of Nephrology (SBN). Randomized controlled clinical studies and studies with real-life data added to the authors' experience were considered for this review. The result of this consensus was to help manage patient and physician expectations regarding treatment outcomes. Thus, this consensus document recommends the investigation of the pediatric family members of an index case, as well as cases with suggestive clinical signs. From the diagnosis, assess all possible FD impairments and grade through scales. From an extensive review of the literature including pediatric protocols and particularly evaluating pediatric cases from general studies, it can be concluded that the benefits of early treatment are great, especially in terms of neuropathic pain and renal impairment parameters and outweigh the possible adverse effects that were mainly manifested by infusion reactions.en
dc.description.affiliationUniversidade de São Paulo
dc.description.affiliationUniversidade Estadual Paulista
dc.description.affiliationClínica de Nefrologia Senhor do Bonfim
dc.description.affiliationUniversidade Federal do Paraná
dc.description.affiliationUnespUniversidade Estadual Paulista
dc.format.extent-
dc.identifierhttp://dx.doi.org/10.1590/2175-8239-JBN-2021-0216
dc.identifier.citationBrazilian Journal of Nephrology. Sociedade Brasileira de Nefrologia, p. -, 2022.
dc.identifier.doi10.1590/2175-8239-JBN-2021-0216
dc.identifier.fileS0101-28002022005016401.pdf
dc.identifier.issn0101-2800
dc.identifier.issn2175-8239
dc.identifier.scieloS0101-28002022005016401
dc.identifier.urihttp://hdl.handle.net/11449/218085
dc.language.isoeng
dc.publisherSociedade Brasileira de Nefrologia
dc.relation.ispartofBrazilian Journal of Nephrology
dc.rights.accessRightsAcesso aberto
dc.sourceSciELO
dc.subjectFabry Diseaseen
dc.subjectConsensusen
dc.subjectRare Diseasesen
dc.titleRecommendations 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)en
dc.typeArtigo
unesp.author.orcid0000-0002-6084-7831[1]
unesp.author.orcid0000-0002-0230-0766[2]
unesp.author.orcid0000-0002-7126-5028[3]
unesp.author.orcid0000-0002-6394-9227[4]

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