Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary center
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Jornal Brasileiro de Nefrologia |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002021000300311 |
Resumo: | Abstract Introduction: Atypical hemolytic uremic syndrome (aHUS) is a rare disorder characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury, which primarily affects preschool-aged children. This study’s aim was to describe the clinical profile, management, and long-term outcome of the genetic aHUS patients admitted to a tertiary care pediatric nephrology center during 20 years. Methods: We performed a retrospective analysis of the clinical records of all aHUS patients younger than 18 years with identified genetic mutations. Data on clinical features, genetic study, therapeutic interventions, and long-term outcomes were reviewed. Results: Five cases of aHUS with an identified genetic mutation were included; all were inaugural cases with the youngest being 4 months old. Complement factor H gene mutation was identified in four patients. Therapeutic plasma exchange was performed for acute management in 4 patients, one of whom also needed acute renal replacement therapy (peritoneal dialysis). All patients went on complete remission, 2 had more than one relapse but only 1 of these progressed to chronic kidney disease during the follow-up period (median (25th-75th percentile), 136 (43.5-200.5) months). Conclusion: In children, the prognosis of renal function seems to be strongly dependent on the genetic background, thus being crucial to perform genetic study in all aHUS cases. In our cohort, 2 patients presented genetic mutations not previously described. Recent innovations on the genetic field leading to the identification of new mutations has lead to a better understanding of aHUS pathogenesis, but further studies, focusing on the genotype-phenotype correlation, with longer follow-up periods, are needed. |
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Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary centerAtypical Hemolytic Uremic SyndromeChildGenetic TestingThrombotic MicroangiopathiesAbstract Introduction: Atypical hemolytic uremic syndrome (aHUS) is a rare disorder characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury, which primarily affects preschool-aged children. This study’s aim was to describe the clinical profile, management, and long-term outcome of the genetic aHUS patients admitted to a tertiary care pediatric nephrology center during 20 years. Methods: We performed a retrospective analysis of the clinical records of all aHUS patients younger than 18 years with identified genetic mutations. Data on clinical features, genetic study, therapeutic interventions, and long-term outcomes were reviewed. Results: Five cases of aHUS with an identified genetic mutation were included; all were inaugural cases with the youngest being 4 months old. Complement factor H gene mutation was identified in four patients. Therapeutic plasma exchange was performed for acute management in 4 patients, one of whom also needed acute renal replacement therapy (peritoneal dialysis). All patients went on complete remission, 2 had more than one relapse but only 1 of these progressed to chronic kidney disease during the follow-up period (median (25th-75th percentile), 136 (43.5-200.5) months). Conclusion: In children, the prognosis of renal function seems to be strongly dependent on the genetic background, thus being crucial to perform genetic study in all aHUS cases. In our cohort, 2 patients presented genetic mutations not previously described. Recent innovations on the genetic field leading to the identification of new mutations has lead to a better understanding of aHUS pathogenesis, but further studies, focusing on the genotype-phenotype correlation, with longer follow-up periods, are needed.Sociedade Brasileira de Nefrologia2021-09-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002021000300311Brazilian Journal of Nephrology v.43 n.3 2021reponame:Jornal Brasileiro de Nefrologiainstname:Sociedade Brasileira de Nefrologia (SBN)instacron:SBN10.1590/2175-8239-jbn-2020-0199info:eu-repo/semantics/openAccessMaximiano,CristianaSilva,AndreiaDuro,InêsBranco,TiagoCorreia-Costa,LianeTeixeira,AnaRocha,LilianaCosta,TeresaMatos,PaulaFaria,Maria do SameiroMota,ConceiçãoAfonso,Alberto Caldaseng2021-11-05T00:00:00Zoai:scielo:S0101-28002021000300311Revistahttp://www.bjn.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||jbn@sbn.org.br2175-82390101-2800opendoar:2021-11-05T00:00Jornal Brasileiro de Nefrologia - Sociedade Brasileira de Nefrologia (SBN)false |
dc.title.none.fl_str_mv |
Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary center |
title |
Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary center |
spellingShingle |
Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary center Maximiano,Cristiana Atypical Hemolytic Uremic Syndrome Child Genetic Testing Thrombotic Microangiopathies |
title_short |
Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary center |
title_full |
Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary center |
title_fullStr |
Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary center |
title_full_unstemmed |
Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary center |
title_sort |
Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary center |
author |
Maximiano,Cristiana |
author_facet |
Maximiano,Cristiana Silva,Andreia Duro,Inês Branco,Tiago Correia-Costa,Liane Teixeira,Ana Rocha,Liliana Costa,Teresa Matos,Paula Faria,Maria do Sameiro Mota,Conceição Afonso,Alberto Caldas |
author_role |
author |
author2 |
Silva,Andreia Duro,Inês Branco,Tiago Correia-Costa,Liane Teixeira,Ana Rocha,Liliana Costa,Teresa Matos,Paula Faria,Maria do Sameiro Mota,Conceição Afonso,Alberto Caldas |
author2_role |
author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Maximiano,Cristiana Silva,Andreia Duro,Inês Branco,Tiago Correia-Costa,Liane Teixeira,Ana Rocha,Liliana Costa,Teresa Matos,Paula Faria,Maria do Sameiro Mota,Conceição Afonso,Alberto Caldas |
dc.subject.por.fl_str_mv |
Atypical Hemolytic Uremic Syndrome Child Genetic Testing Thrombotic Microangiopathies |
topic |
Atypical Hemolytic Uremic Syndrome Child Genetic Testing Thrombotic Microangiopathies |
description |
Abstract Introduction: Atypical hemolytic uremic syndrome (aHUS) is a rare disorder characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury, which primarily affects preschool-aged children. This study’s aim was to describe the clinical profile, management, and long-term outcome of the genetic aHUS patients admitted to a tertiary care pediatric nephrology center during 20 years. Methods: We performed a retrospective analysis of the clinical records of all aHUS patients younger than 18 years with identified genetic mutations. Data on clinical features, genetic study, therapeutic interventions, and long-term outcomes were reviewed. Results: Five cases of aHUS with an identified genetic mutation were included; all were inaugural cases with the youngest being 4 months old. Complement factor H gene mutation was identified in four patients. Therapeutic plasma exchange was performed for acute management in 4 patients, one of whom also needed acute renal replacement therapy (peritoneal dialysis). All patients went on complete remission, 2 had more than one relapse but only 1 of these progressed to chronic kidney disease during the follow-up period (median (25th-75th percentile), 136 (43.5-200.5) months). Conclusion: In children, the prognosis of renal function seems to be strongly dependent on the genetic background, thus being crucial to perform genetic study in all aHUS cases. In our cohort, 2 patients presented genetic mutations not previously described. Recent innovations on the genetic field leading to the identification of new mutations has lead to a better understanding of aHUS pathogenesis, but further studies, focusing on the genotype-phenotype correlation, with longer follow-up periods, are needed. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-09-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002021000300311 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002021000300311 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/2175-8239-jbn-2020-0199 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Nefrologia |
publisher.none.fl_str_mv |
Sociedade Brasileira de Nefrologia |
dc.source.none.fl_str_mv |
Brazilian Journal of Nephrology v.43 n.3 2021 reponame:Jornal Brasileiro de Nefrologia instname:Sociedade Brasileira de Nefrologia (SBN) instacron:SBN |
instname_str |
Sociedade Brasileira de Nefrologia (SBN) |
instacron_str |
SBN |
institution |
SBN |
reponame_str |
Jornal Brasileiro de Nefrologia |
collection |
Jornal Brasileiro de Nefrologia |
repository.name.fl_str_mv |
Jornal Brasileiro de Nefrologia - Sociedade Brasileira de Nefrologia (SBN) |
repository.mail.fl_str_mv |
||jbn@sbn.org.br |
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1752122066992103424 |