Uncommon presentation of atypical hemolytic uremic syndrome: A Case Report

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...

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Autores principales:	Sandra M Martin, Alejandro Balestracci, Iris Puyol, Ismael Toledo, Gabriel Cao, Gema Arizeta
Formato:	article
Lenguaje:	EN
Publicado:	Wolters Kluwer Medknow Publications 2021
Materias:	ahus eculizumab nephrotic syndrome thrombotic microangiopathy Diseases of the genitourinary system. Urology RC870-923
Acceso en línea:	https://doaj.org/article/c961ceefaf71418e906461ccd1be8a4a
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spelling	oai:doaj.org-article:c961ceefaf71418e906461ccd1be8a4a2021-12-02T17:28:22ZUncommon presentation of atypical hemolytic uremic syndrome: A Case Report0971-40651998-366210.4103/ijn.IJN_271_20https://doaj.org/article/c961ceefaf71418e906461ccd1be8a4a2021-01-01T00:00:00Zhttp://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2021;volume=31;issue=5;spage=478;epage=481;aulast=Martinhttps://doaj.org/toc/0971-4065https://doaj.org/toc/1998-3662Atypical 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-old male 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 diagnosis of NS of the first year was established. Studies seeking for infectious agents were negative. During hospitalization 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 plasma infusions as a bridge until starting eculizumab. After two infusions urine output improved leading to discontinuation 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.Sandra M MartinAlejandro BalestracciIris PuyolIsmael ToledoGabriel CaoGema ArizetaWolters Kluwer Medknow Publicationsarticleahuseculizumabnephrotic syndromethrombotic microangiopathyDiseases of the genitourinary system. UrologyRC870-923ENIndian Journal of Nephrology, Vol 31, Iss 5, Pp 478-481 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	ahus eculizumab nephrotic syndrome thrombotic microangiopathy Diseases of the genitourinary system. Urology RC870-923
spellingShingle	ahus eculizumab nephrotic syndrome thrombotic microangiopathy Diseases of the genitourinary system. Urology RC870-923 Sandra M Martin Alejandro Balestracci Iris Puyol Ismael Toledo Gabriel Cao Gema Arizeta Uncommon presentation of atypical hemolytic uremic syndrome: A Case Report
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-old male 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 diagnosis of NS of the first year was established. Studies seeking for infectious agents were negative. During hospitalization 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 plasma infusions as a bridge until starting eculizumab. After two infusions urine output improved leading to discontinuation 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.
format	article
author	Sandra M Martin Alejandro Balestracci Iris Puyol Ismael Toledo Gabriel Cao Gema Arizeta
author_facet	Sandra M Martin Alejandro Balestracci Iris Puyol Ismael Toledo Gabriel Cao Gema Arizeta
author_sort	Sandra M Martin
title	Uncommon presentation of atypical hemolytic uremic syndrome: A Case Report
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
publisher	Wolters Kluwer Medknow Publications
publishDate	2021
url	https://doaj.org/article/c961ceefaf71418e906461ccd1be8a4a
work_keys_str_mv	AT sandrammartin uncommonpresentationofatypicalhemolyticuremicsyndromeacasereport AT alejandrobalestracci uncommonpresentationofatypicalhemolyticuremicsyndromeacasereport AT irispuyol uncommonpresentationofatypicalhemolyticuremicsyndromeacasereport AT ismaeltoledo uncommonpresentationofatypicalhemolyticuremicsyndromeacasereport AT gabrielcao uncommonpresentationofatypicalhemolyticuremicsyndromeacasereport AT gemaarizeta uncommonpresentationofatypicalhemolyticuremicsyndromeacasereport
_version_	1718380754430328832

Uncommon presentation of atypical hemolytic uremic syndrome: A Case Report

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