Uncommon presentation of atypical hemolytic uremic syndrome: A Case Report

Autores
Martin, Sandra M.; Balestracci, Alejandro; Puyol, Iris; Toledo, Ismael; Cao, Gabriel Fernando; Arizeta, Gema
Año de publicación
2021
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Atypical hemolytic uremic syndrome (aHUS) is an ultra‑rare disease characterized by microangiopathic hemolytic anemia, thrombocytopenia and renal damage. Its presentation as nephrotic syndrome (NS) during first year of life is uncommon; we describe a child with clinical and laboratory findings of NS whose renal biopsy revealed thrombotic microangiopathy (TMA). A previously healthy 4‑month‑oldmale was admitted with severe dehydration, diarrhea and anuria. Laboratory results showed electrolyte disturbances, increased serum creatinine, anemia without schistocytes, thrombocytosis, normal lactic dehydrogenase (LDH) levels, hypoalbuminemia hypercholesterolemia and decreased C3 levels.After rehydration hematuria and massive proteinuria were also documented and an initial diagnosisof NS of the first year was established. Studies seeking for infectious agents were negative. Duringhospitalization he continued to be oligo-anuric needing dialysis and a renal biopsy was performed,which showed TMA findings. We here considered the diagnosis of aHUS and started plasmainfusions as a bridge until starting eculizumab. After two infusions urine output improved leading todiscontinuation dialysis. The diagnoses of STEC infection and thrombocytopenic thrombotic purpura were ruled out. Factor B, H, I and properdin levels were normal. Antibodies against CFH negative were negative. Screening for genes causative of aHUS detected a heterozygous variant in CFHR3 of uncertain significance. On day 20, treatment was switched to eculizumab, which induced a progressive remission of the NS. This case outlines the need for a heightened diagnosis suspicion of this already rare disease since early initiation of eculizumab therapy improves its prognosis.
Fil: Martin, Sandra M.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); Argentina
Fil: Balestracci, Alejandro. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); Argentina
Fil: Puyol, Iris. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); Argentina
Fil: Toledo, Ismael. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); Argentina
Fil: Cao, Gabriel Fernando. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Arizeta, Gema. Hospital Vall Dhebron; España
Materia
aHUS
eculizumab
nephrotic syndrome
thrombotic microangiopathy
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/165446
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/165446
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Uncommon presentation of atypical hemolytic uremic syndrome: A Case ReportMartin, Sandra M.Balestracci, AlejandroPuyol, IrisToledo, IsmaelCao, Gabriel FernandoArizeta, GemaaHUSeculizumabnephrotic syndromethrombotic microangiopathyhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Atypical hemolytic uremic syndrome (aHUS) is an ultra‑rare disease characterized by microangiopathic hemolytic anemia, thrombocytopenia and renal damage. Its presentation as nephrotic syndrome (NS) during first year of life is uncommon; we describe a child with clinical and laboratory findings of NS whose renal biopsy revealed thrombotic microangiopathy (TMA). A previously healthy 4‑month‑oldmale was admitted with severe dehydration, diarrhea and anuria. Laboratory results showed electrolyte disturbances, increased serum creatinine, anemia without schistocytes, thrombocytosis, normal lactic dehydrogenase (LDH) levels, hypoalbuminemia hypercholesterolemia and decreased C3 levels.After rehydration hematuria and massive proteinuria were also documented and an initial diagnosisof NS of the first year was established. Studies seeking for infectious agents were negative. Duringhospitalization he continued to be oligo-anuric needing dialysis and a renal biopsy was performed,which showed TMA findings. We here considered the diagnosis of aHUS and started plasmainfusions as a bridge until starting eculizumab. After two infusions urine output improved leading todiscontinuation dialysis. The diagnoses of STEC infection and thrombocytopenic thrombotic purpura were ruled out. Factor B, H, I and properdin levels were normal. Antibodies against CFH negative were negative. Screening for genes causative of aHUS detected a heterozygous variant in CFHR3 of uncertain significance. On day 20, treatment was switched to eculizumab, which induced a progressive remission of the NS. This case outlines the need for a heightened diagnosis suspicion of this already rare disease since early initiation of eculizumab therapy improves its prognosis.Fil: Martin, Sandra M.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); ArgentinaFil: Balestracci, Alejandro. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); ArgentinaFil: Puyol, Iris. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); ArgentinaFil: Toledo, Ismael. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); ArgentinaFil: Cao, Gabriel Fernando. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Arizeta, Gema. Hospital Vall Dhebron; EspañaWolters Kluwer Medknow Publications2021-09info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/165446Martin, Sandra M.; Balestracci, Alejandro; Puyol, Iris; Toledo, Ismael; Cao, Gabriel Fernando; et al.; Uncommon presentation of atypical hemolytic uremic syndrome: A Case Report; Wolters Kluwer Medknow Publications; Indian Journal of Nephrology; 31; 5; 9-2021; 478-4810971-4065CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.4103/ijn.IJN_271_20info:eu-repo/semantics/altIdentifier/url/https://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2021;volume=31;issue=5;spage=478;epage=481;aulast=Martininfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:35:41Zoai:ri.conicet.gov.ar:11336/165446instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:35:42.026CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Uncommon presentation of atypical hemolytic uremic syndrome: A Case Report
title Uncommon presentation of atypical hemolytic uremic syndrome: A Case Report
spellingShingle Uncommon presentation of atypical hemolytic uremic syndrome: A Case Report
Martin, Sandra M.
aHUS
eculizumab
nephrotic syndrome
thrombotic microangiopathy
title_short Uncommon presentation of atypical hemolytic uremic syndrome: A Case Report
title_full Uncommon presentation of atypical hemolytic uremic syndrome: A Case Report
title_fullStr Uncommon presentation of atypical hemolytic uremic syndrome: A Case Report
title_full_unstemmed Uncommon presentation of atypical hemolytic uremic syndrome: A Case Report
title_sort Uncommon presentation of atypical hemolytic uremic syndrome: A Case Report
dc.creator.none.fl_str_mv Martin, Sandra M.
Balestracci, Alejandro
Puyol, Iris
Toledo, Ismael
Cao, Gabriel Fernando
Arizeta, Gema
author Martin, Sandra M.
author_facet Martin, Sandra M.
Balestracci, Alejandro
Puyol, Iris
Toledo, Ismael
Cao, Gabriel Fernando
Arizeta, Gema
author_role author
author2 Balestracci, Alejandro
Puyol, Iris
Toledo, Ismael
Cao, Gabriel Fernando
Arizeta, Gema
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv aHUS
eculizumab
nephrotic syndrome
thrombotic microangiopathy
topic aHUS
eculizumab
nephrotic syndrome
thrombotic microangiopathy
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Atypical hemolytic uremic syndrome (aHUS) is an ultra‑rare disease characterized by microangiopathic hemolytic anemia, thrombocytopenia and renal damage. Its presentation as nephrotic syndrome (NS) during first year of life is uncommon; we describe a child with clinical and laboratory findings of NS whose renal biopsy revealed thrombotic microangiopathy (TMA). A previously healthy 4‑month‑oldmale was admitted with severe dehydration, diarrhea and anuria. Laboratory results showed electrolyte disturbances, increased serum creatinine, anemia without schistocytes, thrombocytosis, normal lactic dehydrogenase (LDH) levels, hypoalbuminemia hypercholesterolemia and decreased C3 levels.After rehydration hematuria and massive proteinuria were also documented and an initial diagnosisof NS of the first year was established. Studies seeking for infectious agents were negative. Duringhospitalization he continued to be oligo-anuric needing dialysis and a renal biopsy was performed,which showed TMA findings. We here considered the diagnosis of aHUS and started plasmainfusions as a bridge until starting eculizumab. After two infusions urine output improved leading todiscontinuation dialysis. The diagnoses of STEC infection and thrombocytopenic thrombotic purpura were ruled out. Factor B, H, I and properdin levels were normal. Antibodies against CFH negative were negative. Screening for genes causative of aHUS detected a heterozygous variant in CFHR3 of uncertain significance. On day 20, treatment was switched to eculizumab, which induced a progressive remission of the NS. This case outlines the need for a heightened diagnosis suspicion of this already rare disease since early initiation of eculizumab therapy improves its prognosis.
Fil: Martin, Sandra M.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); Argentina
Fil: Balestracci, Alejandro. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); Argentina
Fil: Puyol, Iris. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); Argentina
Fil: Toledo, Ismael. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); Argentina
Fil: Cao, Gabriel Fernando. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Arizeta, Gema. Hospital Vall Dhebron; España
description Atypical hemolytic uremic syndrome (aHUS) is an ultra‑rare disease characterized by microangiopathic hemolytic anemia, thrombocytopenia and renal damage. Its presentation as nephrotic syndrome (NS) during first year of life is uncommon; we describe a child with clinical and laboratory findings of NS whose renal biopsy revealed thrombotic microangiopathy (TMA). A previously healthy 4‑month‑oldmale was admitted with severe dehydration, diarrhea and anuria. Laboratory results showed electrolyte disturbances, increased serum creatinine, anemia without schistocytes, thrombocytosis, normal lactic dehydrogenase (LDH) levels, hypoalbuminemia hypercholesterolemia and decreased C3 levels.After rehydration hematuria and massive proteinuria were also documented and an initial diagnosisof NS of the first year was established. Studies seeking for infectious agents were negative. Duringhospitalization he continued to be oligo-anuric needing dialysis and a renal biopsy was performed,which showed TMA findings. We here considered the diagnosis of aHUS and started plasmainfusions as a bridge until starting eculizumab. After two infusions urine output improved leading todiscontinuation dialysis. The diagnoses of STEC infection and thrombocytopenic thrombotic purpura were ruled out. Factor B, H, I and properdin levels were normal. Antibodies against CFH negative were negative. Screening for genes causative of aHUS detected a heterozygous variant in CFHR3 of uncertain significance. On day 20, treatment was switched to eculizumab, which induced a progressive remission of the NS. This case outlines the need for a heightened diagnosis suspicion of this already rare disease since early initiation of eculizumab therapy improves its prognosis.
publishDate 2021
dc.date.none.fl_str_mv 2021-09
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/165446
Martin, Sandra M.; Balestracci, Alejandro; Puyol, Iris; Toledo, Ismael; Cao, Gabriel Fernando; et al.; Uncommon presentation of atypical hemolytic uremic syndrome: A Case Report; Wolters Kluwer Medknow Publications; Indian Journal of Nephrology; 31; 5; 9-2021; 478-481
0971-4065
CONICET Digital
CONICET
url http://hdl.handle.net/11336/165446
identifier_str_mv Martin, Sandra M.; Balestracci, Alejandro; Puyol, Iris; Toledo, Ismael; Cao, Gabriel Fernando; et al.; Uncommon presentation of atypical hemolytic uremic syndrome: A Case Report; Wolters Kluwer Medknow Publications; Indian Journal of Nephrology; 31; 5; 9-2021; 478-481
0971-4065
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.4103/ijn.IJN_271_20
info:eu-repo/semantics/altIdentifier/url/https://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2021;volume=31;issue=5;spage=478;epage=481;aulast=Martin
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Wolters Kluwer Medknow Publications
publisher.none.fl_str_mv Wolters Kluwer Medknow Publications
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.070432

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