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dc.contributor.author
Martin, Sandra M.
dc.contributor.author
Balestracci, Alejandro
dc.contributor.author
Puyol, Iris
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Toledo, Ismael
dc.contributor.author
Cao, Gabriel Fernando
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dc.contributor.author
Arizeta, Gema
dc.date.available
2022-08-12T19:44:58Z
dc.date.issued
2021-09
dc.identifier.citation
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
dc.identifier.issn
0971-4065
dc.identifier.uri
http://hdl.handle.net/11336/165446
dc.description.abstract
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.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Wolters Kluwer Medknow Publications
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
aHUS
dc.subject
eculizumab
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nephrotic syndrome
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thrombotic microangiopathy
dc.subject.classification
Urología y Nefrología
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Medicina Clínica
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dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
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dc.title
Uncommon presentation of atypical hemolytic uremic syndrome: A Case Report
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2022-08-11T13:06:56Z
dc.journal.volume
31
dc.journal.number
5
dc.journal.pagination
478-481
dc.journal.pais
India
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dc.description.fil
Fil: Martin, Sandra M.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); Argentina
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Fil: Balestracci, Alejandro. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); Argentina
dc.description.fil
Fil: Puyol, Iris. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); Argentina
dc.description.fil
Fil: Toledo, Ismael. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); Argentina
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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
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Fil: Arizeta, Gema. Hospital Vall Dhebron; España
dc.journal.title
Indian Journal of Nephrology
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.4103/ijn.IJN_271_20
dc.relation.alternativeid
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
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