Atypical hemolytic uremia syndrome in a young adult male

Atypical hemolytic uremia syndrome (aHUS) is a rare and life-threatening disease, characterized by the same triad of hemolytic anemia, thrombocytopenia, and renal failure as seen in HUS. It differs in its etiology, being caused by a dysregulation of the complement pathway rather than Shiga-like toxin-producing Escherichia coli. Prognosis is poor, with 50% of cases progressing to end-stage renal disease (ESRD) and 25% succumbing in the acute phase. The treatment of choice is therapeutic plasma exchange which can lower mortality. Monoclonal antibody drugs such as eculizumab, which suppress the dysregulated complement pathway, help to prevent complement-mediated kidney injury. We report the case of a young adult male who presented with thrombocytopenia and worsening acute kidney injury and was diagnosed with aHUS based on high lactic dehydrogenase, low complement C3, and haptoglobin, as well as renal biopsy showing thrombotic microangiopathy

Síndrome urémico hemolítico atípico de presentación neonatal / Atypical hemolytic uremic syndrome of neonatal presentation

El Síndrome urémico hemolítico (SUH) tiene formas típicas y atípicas. Se describe una variedad de formas genéticas con pobre pronóstico. Presentamos un bebé prematuro de 36 semanas, de bajo peso al nacer, quien a las 2 semanas de vida cursó con sepsis y necrosis intestinal siendo sometido a cirugía para realizarle ileostomía. Evolucionó con hipertensión arterial, hematuria, falla renal aguda y proteinuria persistente. A los 2 meses de vida, posterior al cierre de ileostomía, cursó con shock séptico y falleció. La biopsia renal post mortem mostró cuadro compatible de SUH. Dos años después, un hermano debutó a los 2 días de vida con síndrome nefrótico congénito. El estudio genético reveló que la madre era portadora del gen NPHS1 y el padre, del Factor I de complemento. El segundo hijo era portador de ambos genes.

Hemolytic Uremic Syndrome (HUS) has typical and atypical presentations. A variety of genetic forms, with poor prognosis are described. We report a 36 week premature baby, low birth weight, who at 2 weeks of life evolved with sepsis and intestinal necrosis undergoing surgery for ileostomy, hypertension, hematuria, acute renal failure and persistent proteinuria. At 2 months, after ileostomy closure, developed irreversible septic shock and died. Postmortem renal biopsy was compatible with HUS. Two years later, a brother presented after 2 days of birth with congenital nephrotic syndrome. Genetic studies revealed that the mother was carrying the gene NPHS1 and the father, factor I of complement. The second child was a carrier of both genes.

A Case of Hemolytic Uremic Syndrome Induced by Pneumococcal Infection

Hemolytic Uremic Syndrome (HUS) is the most common cause of acute renal failure in children and is comprised of the combination of hemolytic anemia, thrombocytopenia, and acute renal failure. Atypical HUS, rare in childhood, has worse prognosis than that of typical HUS and is associated with chemotherapy drug, other bacterial (especially Streptococcus pneumoniae) or viral infections, and so on. We report a case of HUS caused by pneumococcal infection in 4-year-old boy. While he was admitted with pneumonia and pleural effusion, pneumococcal infection could be revealed. Although HUS progressed rapidly, he immediately received 3-time hemodialysis and recovered completely after two weeks.