Official websites use. Share sensitive information only on official, secure websites. Usage and distribution for commercial purposes requires written permission. We present the case of a year-old Caucasian male whose condition featured acute renal failure, anemia, and deep thrombocytopenia after five consecutive days of diarrhea. Campylobacter coli was identified in stool cultures and, although the direct role of this germ in the pathogenesis of hemolytic uremic syndrome HUS remains uncertain to this day, initial presentation was considered broadly consistent with typical HUS.
However, the patient showed no signs of spontaneous recovery over time. Worsening kidney failure required emergency renal replacement therapy and was followed by cardiac involvement in the form of acute heart failure.
Given this unfavorable development, blood samples were drawn to look for mutations in the alternate complement pathway, and eculizumab therapy was initiated without further delay, allowing prompt improvement of cardiac function and recovery of diuresis.
Upon discharge, the patient still had to undergo intermittent dialysis, which would later be withdrawn. Genetic analysis ultimately confirmed the presence of a complement factor H mutation associated with a high risk of disease recurrence, indicating long-term continuation of eculizumab therapy. Keywords: Atypical hemolytic uremic syndrome, Campylobacter, Complement system, Alternate pathway. The diagnosis of HUS is suggested by the following triad: mechanical hemolytic anemia, thrombocytopenia, and acute renal failure.
Here, we present the case of a year-old adolescent with factor H-associated aHUS, whose initial presentation was that of a typical diarrhea-associated HUS. The purpose of this article was to draw attention to this peculiar onset of aHUS and to stress the importance of analyzing the alternate pathway of complement if the course of a supposedly typical HUS turns out to be unusual. A year-old Caucasian male with no previous medical history presented to the pediatric emergency department on February 24, , with a 5-day history of diarrhea.
