Artículo
Uncommon presentation of atypical hemolytic uremic syndrome: A Case Report
Martin, Sandra M.; Balestracci, Alejandro; Puyol, Iris; Toledo, Ismael; Cao, Gabriel Fernando
; Arizeta, Gema
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Fecha de publicación:
09/2021
Editorial:
Wolters Kluwer Medknow Publications
Revista:
Indian Journal of Nephrology
ISSN:
0971-4065
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
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.
Palabras clave:
aHUS
,
eculizumab
,
nephrotic syndrome
,
thrombotic microangiopathy
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Citación
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
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