AI Article Synopsis

  • - A 17-year-old Caucasian male experienced severe health issues including acute renal failure and anemia after five days of diarrhea, with stool cultures revealing a germ often linked to hemolytic uremic syndrome (HUS) although its role was uncertain.
  • - Initial tests ruled out common triggers of HUS, but the patient's condition worsened, leading to emergency renal replacement therapy and subsequent acute heart failure.
  • - After identifying a specific genetic mutation related to the complement pathway, the patient received eculizumab treatment, which improved his heart function and kidney performance, but he required ongoing dialysis and long-term therapy for potential disease recurrence.

Article Abstract

We present the case of a 17-year-old Caucasian male whose condition featured acute renal failure, anemia, and deep thrombocytopenia after five consecutive days of diarrhea. 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. While secondary investigations showed no abnormalities in ADAMTS13 activity or in the alternate pathway of complement, patient's condition deteriorated. 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 Upon discharge, the patient still had to undergo intermittent dialysis, which would later be withdrawn.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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601843PMC
http://dx.doi.org/10.1159/000529941DOI Listing

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