From post-infectious glomerulonephritis to complement-mediated aHUS: a diagnostic challenge.
Saeed Alzabali, Reem AlRasheed, Abdulkarim Alanazi et al.
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Case in brief
A 4-year-old boy presented with edema, hypertension, hematuria, and reduced urine output. Testing showed low C3 and impaired kidney function, and biopsy confirmed post-infectious glomerulonephritis (PIGN). Kidney function remained impaired despite supportive care, corticosteroids, and mycophenolate mofetil. Ten weeks later, he developed thrombotic microangiopathy with anemia, thrombocytopenia, and worsening creatinine. Eculizumab was followed by rapid hematologic normalization and kidney recovery. Genetic testing identified CFHR1/CFHR3 and CD46 mutations, supporting susceptibility to complement-mediated atypical hemolytic uremic syndrome (aHUS).
What made this case unusual
The diagnostic course evolved from biopsy-confirmed PIGN to thrombotic microangiopathy ten weeks later, with genetic findings supporting complement-mediated aHUS susceptibility.
Diagnostic / clinical pearl
In a child with PIGN and persistent kidney impairment, subsequent anemia and thrombocytopenia may signal thrombotic microangiopathy and complement-mediated aHUS; genetic susceptibility can help explain the overlap.
Why it matters
The report highlights that recognizing this evolving presentation can prompt complement inhibition, which in this child was followed by hematologic normalization and kidney recovery.