Baseline characteristics and evolution of Brazilian patients with atypical hemolytic uremic syndrome: first report of the Brazilian aHUS Registry
Autor(a) principal: | |
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Data de Publicação: | 2022 |
Outros Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.1093/ckj/sfac097 http://hdl.handle.net/11449/237756 |
Resumo: | Background Atypical hemolytic uremic syndrome (aHUS) is an ultra-rare disease. Therefore, studies involving large samples are scarce, making registries powerful tools to evaluate cases. We present herein the first analysis of the Brazilian aHUS Registry (BRaHUS). Methods Analysis of clinical, laboratory, genetic and treatment data from patients inserted in the BRaHUS, from 2017 to 2020, as an initiative of the Rare Diseases Committee of the Brazilian Society of Nephrology. Results The cohort consisted of 75 patients (40 adults and 35 pediatric). There was a predominance of women (56%), median age at diagnosis of 20.7 years and a positive family history in 8% of cases. Renal involvement was observed in all cases and 37% had low C3 levels. In the <2 years of age group, males were predominant. Children presented lower levels of hemoglobin (P = .01) and platelets (P = .003), and higher levels of lactate dehydrogenase (LDH) (P = .004) than adults. Genetic analysis performed in 44% of patients revealed pathogenic variants in 66.6% of them, mainly in CFH and the CFHR1-3 deletion. Plasmapheresis was performed more often in adults (P = .005) and 97.3% of patients were treated with eculizumab and its earlier administration was associated with dialysis-free after 3 months (P = .08). Conclusions The cohort of BRaHUS was predominantly composed of female young adults, with renal involvement in all cases. Pediatric patients had lower hemoglobin and platelet levels and higher LDH levels than adults, and the most common genetic variants were identified in CFH and the CFHR1-3 deletion with no preference of age, a peculiar pattern of Brazilian patients. |
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Baseline characteristics and evolution of Brazilian patients with atypical hemolytic uremic syndrome: first report of the Brazilian aHUS RegistryAtypical hemolytic uremic syndromeBrazilEculizumabGeneticRare diseasesBackground Atypical hemolytic uremic syndrome (aHUS) is an ultra-rare disease. Therefore, studies involving large samples are scarce, making registries powerful tools to evaluate cases. We present herein the first analysis of the Brazilian aHUS Registry (BRaHUS). Methods Analysis of clinical, laboratory, genetic and treatment data from patients inserted in the BRaHUS, from 2017 to 2020, as an initiative of the Rare Diseases Committee of the Brazilian Society of Nephrology. Results The cohort consisted of 75 patients (40 adults and 35 pediatric). There was a predominance of women (56%), median age at diagnosis of 20.7 years and a positive family history in 8% of cases. Renal involvement was observed in all cases and 37% had low C3 levels. In the <2 years of age group, males were predominant. Children presented lower levels of hemoglobin (P = .01) and platelets (P = .003), and higher levels of lactate dehydrogenase (LDH) (P = .004) than adults. Genetic analysis performed in 44% of patients revealed pathogenic variants in 66.6% of them, mainly in CFH and the CFHR1-3 deletion. Plasmapheresis was performed more often in adults (P = .005) and 97.3% of patients were treated with eculizumab and its earlier administration was associated with dialysis-free after 3 months (P = .08). Conclusions The cohort of BRaHUS was predominantly composed of female young adults, with renal involvement in all cases. Pediatric patients had lower hemoglobin and platelet levels and higher LDH levels than adults, and the most common genetic variants were identified in CFH and the CFHR1-3 deletion with no preference of age, a peculiar pattern of Brazilian patients.Brazilian Society of NephrologyUniv Sao Paulo, Child Inst, Pediat Nephrol Serv, Sao Paulo, BrazilUniv Estadual Paulista, Dept Internal Med, Nephrol Div, UNESP, Botucatu, SP, BrazilUniv Sao Paulo, Div Nephrol, Sch Med, Sao Paulo, BrazilHosp Alemao Oswaldo Cruz, Nephrol & Dialysis Ctr, Sao Paulo, BrazilUniv Estadual Campinas, Pediat Nephrol Serv, Campinas, BrazilUniv Sao Paulo, Renal Transplant Unit, Sch Med, Sao Paulo, BrazilGrp CSB, Nephrol Dept, Feira De Santana, BA, BrazilFed Hosp Bonsucesso, Nephrol & Transplant Ctr, Rio De Janeiro, BrazilSanta Casa Belo Horizonte, Nephrol Ctr, Pediat Nephrol Unit, Belo Horizonte, MG, BrazilUniv Fed Mato Grosso do Sul, Pediat Nephrol Serv, Campo Grande, MS, BrazilUniv Fed Bahia, Pediat Nephrol Serv, Salvador, BA, BrazilSanta Casa Belo Horizonte, Nephrol Ctr, Belo Horizonte, MG, BrazilNephropathol Inst, Belo Horizonte, MG, BrazilUniv Fed Sao Paulo, Nephrol Discipline, Sao Paulo, BrazilUniv Estadual Paulista, Pediat Nephrol Serv, UNESP, Botucatu, BrazilPro Rim Fdn, Joinvile, BrazilSanta Casa Franca, Franca, SP, BrazilUniv Fed Goias, Clin Hosp, Goiania, Go, BrazilINEFRO Nephrol Inst DAVITA, Sao Jose Dos Campos, BrazilSinha Junqueira Hosp, Nephrol Serv, Ribeirao Preto, BrazilPresidente Dutra Hosp, Nephrol Serv, Presidente Dutra, BrazilState Hosp Acre Fdn, Nephrol Serv, Rio Branco, BrazilProrenal Fdn, Curitiba, Parana, BrazilPequeno Principe Hosp, Pediat Nephrol Serv, Curitiba, Parana, BrazilMarcelino Champagnat Hosp, Nephrol Serv, Curitiba, Parana, BrazilNEFRON Nephrol Serv, Porto Velho, BrazilUniv Fed Parana, Nephrol Serv, Curitiba, Parana, BrazilUniv Fed Goias, Pediat Nephrol Serv, Goiania, Go, BrazilSanta Casa Juiz de Fora, Nephrol Serv, Juiz De Fora, BrazilHemodialysis Inst Sorocaba, Sorocaba, BrazilUniv Estadual Ciencias Sande Alagoas, Nephrol Div, Maceio, Alagoas, BrazilClin Hosp Samuel Libanio, Pouso Alegre, MG, BrazilUniv Sao Paulo, Nephrol Discipline, Ribeirao Preto Med Sch, Ribeirao Preto, BrazilUniv Estadual Paulista, Dept Internal Med, Nephrol Div, UNESP, Botucatu, SP, BrazilUniv Estadual Paulista, Pediat Nephrol Serv, UNESP, Botucatu, BrazilOxford Univ PressUniversidade de São Paulo (USP)Universidade Estadual Paulista (UNESP)Hosp Alemao Oswaldo CruzUniversidade Estadual de Campinas (UNICAMP)Grp CSBFed Hosp BonsucessoSanta Casa Belo HorizonteUniversidade Federal de Mato Grosso do Sul (UFMS)Universidade Federal da Bahia (UFBA)Nephropathol InstUniversidade Federal de São Paulo (UNIFESP)Pro Rim FdnSanta Casa FrancaUniversidade Federal de Goiás (UFG)INEFRO Nephrol Inst DAVITASinha Junqueira HospPresidente Dutra HospState Hosp Acre FdnProrenal FdnPequeno Principe HospMarcelino Champagnat HospNEFRON Nephrol ServUniv Fed ParanaSanta Casa Juiz de ForaHemodialysis Inst SorocabaUniv Estadual Ciencias Sande AlagoasClin Hosp Samuel LibanioVaisbich, Maria HelenaAndrade, Luis Gustavo Modelli de[UNESP]Neves, Precil Diego Miranda de MenezesPalma, Lilian Monteiro PereiraCastro, Maria Cristina Ribeiro deSilva, Cassiano Augusto BragaBarbosa, Maria Izabel Neves de HolandaPenido, Maria Goretti Moreira GuimaraesFerra Neto, Oreste, AngeloSobral, Roberta Mendes LimaMiranda, Silvana Maria CarvalhoAraujo, Stanley de AlmeidaPietrobom, Igor GouveiaTakase, Henrique Mochida [UNESP]Ribeiro, ClaudiaSilva, Rafael Marques daCarvalho, Cesar Augusto Almeida deMachado, David Jose BarrosSimoes Teixeira E Silva, Ana MateusSilva, Andreia Ribeiro daRusso, Enzo RicardoBarros, Flavio Henrique SoaresNasserala, Jarinne Camilo LandimOliveira, Luciana Schmitt Cardon deSylvestre, Lucimary de CastroWeissheimer, RafaelNascimento, Sueli OliveiraBianchini, GilsonBarreto, Fellype de CarvalhoPigozzi Veloso, Valeria SoaresFortes, Patricia MarquesColares, Vinicius SardaoGomes, Jaelson GuilhemLeite, Andre Falcao PedrosaMesquita, Pablo Girardelli MendoncaVieira-Neto, Osvaldo MeregeRare Dis CommBrazilian Soc Nephrology2022-11-30T13:43:59Z2022-11-30T13:43:59Z2022-04-11info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article1601-1611http://dx.doi.org/10.1093/ckj/sfac097Clinical Kidney Journal. Oxford: Oxford Univ Press, v. 15, n. 8, p. 1601-1611, 2022.2048-8505http://hdl.handle.net/11449/23775610.1093/ckj/sfac097WOS:000808213400001Web of Sciencereponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengClinical Kidney Journalinfo:eu-repo/semantics/openAccess2022-11-30T13:44:00Zoai:repositorio.unesp.br:11449/237756Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462022-11-30T13:44Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Baseline characteristics and evolution of Brazilian patients with atypical hemolytic uremic syndrome: first report of the Brazilian aHUS Registry |
title |
Baseline characteristics and evolution of Brazilian patients with atypical hemolytic uremic syndrome: first report of the Brazilian aHUS Registry |
spellingShingle |
Baseline characteristics and evolution of Brazilian patients with atypical hemolytic uremic syndrome: first report of the Brazilian aHUS Registry Vaisbich, Maria Helena Atypical hemolytic uremic syndrome Brazil Eculizumab Genetic Rare diseases |
title_short |
Baseline characteristics and evolution of Brazilian patients with atypical hemolytic uremic syndrome: first report of the Brazilian aHUS Registry |
title_full |
Baseline characteristics and evolution of Brazilian patients with atypical hemolytic uremic syndrome: first report of the Brazilian aHUS Registry |
title_fullStr |
Baseline characteristics and evolution of Brazilian patients with atypical hemolytic uremic syndrome: first report of the Brazilian aHUS Registry |
title_full_unstemmed |
Baseline characteristics and evolution of Brazilian patients with atypical hemolytic uremic syndrome: first report of the Brazilian aHUS Registry |
title_sort |
Baseline characteristics and evolution of Brazilian patients with atypical hemolytic uremic syndrome: first report of the Brazilian aHUS Registry |
author |
Vaisbich, Maria Helena |
author_facet |
Vaisbich, Maria Helena Andrade, Luis Gustavo Modelli de[UNESP] Neves, Precil Diego Miranda de Menezes Palma, Lilian Monteiro Pereira Castro, Maria Cristina Ribeiro de Silva, Cassiano Augusto Braga Barbosa, Maria Izabel Neves de Holanda Penido, Maria Goretti Moreira Guimaraes Ferra Neto, Oreste, Angelo Sobral, Roberta Mendes Lima Miranda, Silvana Maria Carvalho Araujo, Stanley de Almeida Pietrobom, Igor Gouveia Takase, Henrique Mochida [UNESP] Ribeiro, Claudia Silva, Rafael Marques da Carvalho, Cesar Augusto Almeida de Machado, David Jose Barros Simoes Teixeira E Silva, Ana Mateus Silva, Andreia Ribeiro da Russo, Enzo Ricardo Barros, Flavio Henrique Soares Nasserala, Jarinne Camilo Landim Oliveira, Luciana Schmitt Cardon de Sylvestre, Lucimary de Castro Weissheimer, Rafael Nascimento, Sueli Oliveira Bianchini, Gilson Barreto, Fellype de Carvalho Pigozzi Veloso, Valeria Soares Fortes, Patricia Marques Colares, Vinicius Sardao Gomes, Jaelson Guilhem Leite, Andre Falcao Pedrosa Mesquita, Pablo Girardelli Mendonca Vieira-Neto, Osvaldo Merege Rare Dis Comm Brazilian Soc Nephrology |
author_role |
author |
author2 |
Andrade, Luis Gustavo Modelli de[UNESP] Neves, Precil Diego Miranda de Menezes Palma, Lilian Monteiro Pereira Castro, Maria Cristina Ribeiro de Silva, Cassiano Augusto Braga Barbosa, Maria Izabel Neves de Holanda Penido, Maria Goretti Moreira Guimaraes Ferra Neto, Oreste, Angelo Sobral, Roberta Mendes Lima Miranda, Silvana Maria Carvalho Araujo, Stanley de Almeida Pietrobom, Igor Gouveia Takase, Henrique Mochida [UNESP] Ribeiro, Claudia Silva, Rafael Marques da Carvalho, Cesar Augusto Almeida de Machado, David Jose Barros Simoes Teixeira E Silva, Ana Mateus Silva, Andreia Ribeiro da Russo, Enzo Ricardo Barros, Flavio Henrique Soares Nasserala, Jarinne Camilo Landim Oliveira, Luciana Schmitt Cardon de Sylvestre, Lucimary de Castro Weissheimer, Rafael Nascimento, Sueli Oliveira Bianchini, Gilson Barreto, Fellype de Carvalho Pigozzi Veloso, Valeria Soares Fortes, Patricia Marques Colares, Vinicius Sardao Gomes, Jaelson Guilhem Leite, Andre Falcao Pedrosa Mesquita, Pablo Girardelli Mendonca Vieira-Neto, Osvaldo Merege Rare Dis Comm Brazilian Soc Nephrology |
author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Universidade de São Paulo (USP) Universidade Estadual Paulista (UNESP) Hosp Alemao Oswaldo Cruz Universidade Estadual de Campinas (UNICAMP) Grp CSB Fed Hosp Bonsucesso Santa Casa Belo Horizonte Universidade Federal de Mato Grosso do Sul (UFMS) Universidade Federal da Bahia (UFBA) Nephropathol Inst Universidade Federal de São Paulo (UNIFESP) Pro Rim Fdn Santa Casa Franca Universidade Federal de Goiás (UFG) INEFRO Nephrol Inst DAVITA Sinha Junqueira Hosp Presidente Dutra Hosp State Hosp Acre Fdn Prorenal Fdn Pequeno Principe Hosp Marcelino Champagnat Hosp NEFRON Nephrol Serv Univ Fed Parana Santa Casa Juiz de Fora Hemodialysis Inst Sorocaba Univ Estadual Ciencias Sande Alagoas Clin Hosp Samuel Libanio |
dc.contributor.author.fl_str_mv |
Vaisbich, Maria Helena Andrade, Luis Gustavo Modelli de[UNESP] Neves, Precil Diego Miranda de Menezes Palma, Lilian Monteiro Pereira Castro, Maria Cristina Ribeiro de Silva, Cassiano Augusto Braga Barbosa, Maria Izabel Neves de Holanda Penido, Maria Goretti Moreira Guimaraes Ferra Neto, Oreste, Angelo Sobral, Roberta Mendes Lima Miranda, Silvana Maria Carvalho Araujo, Stanley de Almeida Pietrobom, Igor Gouveia Takase, Henrique Mochida [UNESP] Ribeiro, Claudia Silva, Rafael Marques da Carvalho, Cesar Augusto Almeida de Machado, David Jose Barros Simoes Teixeira E Silva, Ana Mateus Silva, Andreia Ribeiro da Russo, Enzo Ricardo Barros, Flavio Henrique Soares Nasserala, Jarinne Camilo Landim Oliveira, Luciana Schmitt Cardon de Sylvestre, Lucimary de Castro Weissheimer, Rafael Nascimento, Sueli Oliveira Bianchini, Gilson Barreto, Fellype de Carvalho Pigozzi Veloso, Valeria Soares Fortes, Patricia Marques Colares, Vinicius Sardao Gomes, Jaelson Guilhem Leite, Andre Falcao Pedrosa Mesquita, Pablo Girardelli Mendonca Vieira-Neto, Osvaldo Merege Rare Dis Comm Brazilian Soc Nephrology |
dc.subject.por.fl_str_mv |
Atypical hemolytic uremic syndrome Brazil Eculizumab Genetic Rare diseases |
topic |
Atypical hemolytic uremic syndrome Brazil Eculizumab Genetic Rare diseases |
description |
Background Atypical hemolytic uremic syndrome (aHUS) is an ultra-rare disease. Therefore, studies involving large samples are scarce, making registries powerful tools to evaluate cases. We present herein the first analysis of the Brazilian aHUS Registry (BRaHUS). Methods Analysis of clinical, laboratory, genetic and treatment data from patients inserted in the BRaHUS, from 2017 to 2020, as an initiative of the Rare Diseases Committee of the Brazilian Society of Nephrology. Results The cohort consisted of 75 patients (40 adults and 35 pediatric). There was a predominance of women (56%), median age at diagnosis of 20.7 years and a positive family history in 8% of cases. Renal involvement was observed in all cases and 37% had low C3 levels. In the <2 years of age group, males were predominant. Children presented lower levels of hemoglobin (P = .01) and platelets (P = .003), and higher levels of lactate dehydrogenase (LDH) (P = .004) than adults. Genetic analysis performed in 44% of patients revealed pathogenic variants in 66.6% of them, mainly in CFH and the CFHR1-3 deletion. Plasmapheresis was performed more often in adults (P = .005) and 97.3% of patients were treated with eculizumab and its earlier administration was associated with dialysis-free after 3 months (P = .08). Conclusions The cohort of BRaHUS was predominantly composed of female young adults, with renal involvement in all cases. Pediatric patients had lower hemoglobin and platelet levels and higher LDH levels than adults, and the most common genetic variants were identified in CFH and the CFHR1-3 deletion with no preference of age, a peculiar pattern of Brazilian patients. |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-11-30T13:43:59Z 2022-11-30T13:43:59Z 2022-04-11 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.1093/ckj/sfac097 Clinical Kidney Journal. Oxford: Oxford Univ Press, v. 15, n. 8, p. 1601-1611, 2022. 2048-8505 http://hdl.handle.net/11449/237756 10.1093/ckj/sfac097 WOS:000808213400001 |
url |
http://dx.doi.org/10.1093/ckj/sfac097 http://hdl.handle.net/11449/237756 |
identifier_str_mv |
Clinical Kidney Journal. Oxford: Oxford Univ Press, v. 15, n. 8, p. 1601-1611, 2022. 2048-8505 10.1093/ckj/sfac097 WOS:000808213400001 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Clinical Kidney Journal |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
1601-1611 |
dc.publisher.none.fl_str_mv |
Oxford Univ Press |
publisher.none.fl_str_mv |
Oxford Univ Press |
dc.source.none.fl_str_mv |
Web of Science reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
|
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1797789990842793984 |