Portuguese Consensus Document Statement in Diagnostic and Management of Atypical Hemolytic Uremic Syndrome

Detalhes bibliográficos
Autor(a) principal: Azevedo, A
Data de Publicação: 2018
Outros Autores: Faria, B, Teixeira, C, Carvalho, F, Neto, G, Santos, J, Santos, MC, Oliveira, N, Fidalgo, T, Calado, J
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.17/3134
Resumo: Among thrombotic microangiopathies (TMA), the hemolytic uremic syndrome associated with dysregulation of the alternative complement pathway (aHUS) is one of the most challenging diseases a nephrologist can face. By the end of the XXth century, the complement’s role was unraveled with the discovery that mutations in the factor H coding gene were responsible for aHUS. But it was the acknowledgment that pharmacological C5-9 blockage provided a cure for aHUS that fostered the interest of the nephrology community in the genetics, pathophysiology and therapeutics of, not only of aHUS, but TMA in general. The molecular genetics of aHUS is technically demanding and, as such, in Portugal (alike many other European countries) a single laboratory emerged as a national reference center. The fact that all samples are evaluated in a single center provides a unique opportunity for data collection and a forum for discussion for all those interested in the field: immunologists, molecular geneticists, pathologists and nephrologists. The current consensus document emerged from such a discussion forum and was sponsored by the Portuguese Society of Nephrology. The goal is more to portray the Portuguese picture regarding the diagnostic approach and therapeutic options than to extensively review the state of the art of the subject. The accompanying documents that are published as supplementary data are in line with that goal. They range from the informed consent and clinical form to be sent together with the biological samples for genetic testing, to the appendix regarding the actual sampling and storing conditions. The document is also intended to set an example for future documents and independent discussion forums on other kidney diseases for which emerging diagnostic and/or therapeutic strategies are reaching clinical practice.
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spelling Portuguese Consensus Document Statement in Diagnostic and Management of Atypical Hemolytic Uremic SyndromeAtypical Hemolytic Uremic SyndromeKidney TransplantationTerminal Complement BlockagePortugalHDE NEF PEDHCC NEFAmong thrombotic microangiopathies (TMA), the hemolytic uremic syndrome associated with dysregulation of the alternative complement pathway (aHUS) is one of the most challenging diseases a nephrologist can face. By the end of the XXth century, the complement’s role was unraveled with the discovery that mutations in the factor H coding gene were responsible for aHUS. But it was the acknowledgment that pharmacological C5-9 blockage provided a cure for aHUS that fostered the interest of the nephrology community in the genetics, pathophysiology and therapeutics of, not only of aHUS, but TMA in general. The molecular genetics of aHUS is technically demanding and, as such, in Portugal (alike many other European countries) a single laboratory emerged as a national reference center. The fact that all samples are evaluated in a single center provides a unique opportunity for data collection and a forum for discussion for all those interested in the field: immunologists, molecular geneticists, pathologists and nephrologists. The current consensus document emerged from such a discussion forum and was sponsored by the Portuguese Society of Nephrology. The goal is more to portray the Portuguese picture regarding the diagnostic approach and therapeutic options than to extensively review the state of the art of the subject. The accompanying documents that are published as supplementary data are in line with that goal. They range from the informed consent and clinical form to be sent together with the biological samples for genetic testing, to the appendix regarding the actual sampling and storing conditions. The document is also intended to set an example for future documents and independent discussion forums on other kidney diseases for which emerging diagnostic and/or therapeutic strategies are reaching clinical practice.Sociedade Portuguesa de NefrologiaRepositório do Centro Hospitalar Universitário de Lisboa Central, EPEAzevedo, AFaria, BTeixeira, CCarvalho, FNeto, GSantos, JSantos, MCOliveira, NFidalgo, TCalado, J2018-12-04T13:55:21Z20182018-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/3134engPort J Nephrol Hypert 2018; 32(3): 211-232info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-03-10T09:41:26Zoai:repositorio.chlc.min-saude.pt:10400.17/3134Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:20:28.121148Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Portuguese Consensus Document Statement in Diagnostic and Management of Atypical Hemolytic Uremic Syndrome
title Portuguese Consensus Document Statement in Diagnostic and Management of Atypical Hemolytic Uremic Syndrome
spellingShingle Portuguese Consensus Document Statement in Diagnostic and Management of Atypical Hemolytic Uremic Syndrome
Azevedo, A
Atypical Hemolytic Uremic Syndrome
Kidney Transplantation
Terminal Complement Blockage
Portugal
HDE NEF PED
HCC NEF
title_short Portuguese Consensus Document Statement in Diagnostic and Management of Atypical Hemolytic Uremic Syndrome
title_full Portuguese Consensus Document Statement in Diagnostic and Management of Atypical Hemolytic Uremic Syndrome
title_fullStr Portuguese Consensus Document Statement in Diagnostic and Management of Atypical Hemolytic Uremic Syndrome
title_full_unstemmed Portuguese Consensus Document Statement in Diagnostic and Management of Atypical Hemolytic Uremic Syndrome
title_sort Portuguese Consensus Document Statement in Diagnostic and Management of Atypical Hemolytic Uremic Syndrome
author Azevedo, A
author_facet Azevedo, A
Faria, B
Teixeira, C
Carvalho, F
Neto, G
Santos, J
Santos, MC
Oliveira, N
Fidalgo, T
Calado, J
author_role author
author2 Faria, B
Teixeira, C
Carvalho, F
Neto, G
Santos, J
Santos, MC
Oliveira, N
Fidalgo, T
Calado, J
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE
dc.contributor.author.fl_str_mv Azevedo, A
Faria, B
Teixeira, C
Carvalho, F
Neto, G
Santos, J
Santos, MC
Oliveira, N
Fidalgo, T
Calado, J
dc.subject.por.fl_str_mv Atypical Hemolytic Uremic Syndrome
Kidney Transplantation
Terminal Complement Blockage
Portugal
HDE NEF PED
HCC NEF
topic Atypical Hemolytic Uremic Syndrome
Kidney Transplantation
Terminal Complement Blockage
Portugal
HDE NEF PED
HCC NEF
description Among thrombotic microangiopathies (TMA), the hemolytic uremic syndrome associated with dysregulation of the alternative complement pathway (aHUS) is one of the most challenging diseases a nephrologist can face. By the end of the XXth century, the complement’s role was unraveled with the discovery that mutations in the factor H coding gene were responsible for aHUS. But it was the acknowledgment that pharmacological C5-9 blockage provided a cure for aHUS that fostered the interest of the nephrology community in the genetics, pathophysiology and therapeutics of, not only of aHUS, but TMA in general. The molecular genetics of aHUS is technically demanding and, as such, in Portugal (alike many other European countries) a single laboratory emerged as a national reference center. The fact that all samples are evaluated in a single center provides a unique opportunity for data collection and a forum for discussion for all those interested in the field: immunologists, molecular geneticists, pathologists and nephrologists. The current consensus document emerged from such a discussion forum and was sponsored by the Portuguese Society of Nephrology. The goal is more to portray the Portuguese picture regarding the diagnostic approach and therapeutic options than to extensively review the state of the art of the subject. The accompanying documents that are published as supplementary data are in line with that goal. They range from the informed consent and clinical form to be sent together with the biological samples for genetic testing, to the appendix regarding the actual sampling and storing conditions. The document is also intended to set an example for future documents and independent discussion forums on other kidney diseases for which emerging diagnostic and/or therapeutic strategies are reaching clinical practice.
publishDate 2018
dc.date.none.fl_str_mv 2018-12-04T13:55:21Z
2018
2018-01-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.17/3134
url http://hdl.handle.net/10400.17/3134
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Port J Nephrol Hypert 2018; 32(3): 211-232
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Sociedade Portuguesa de Nefrologia
publisher.none.fl_str_mv Sociedade Portuguesa de Nefrologia
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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