When two rare diseases meet: atypical hemolytic uremic syndrome and alkaptonuria in two siblings.
Cebrail Karaca, Beril Karatas, Ruhat Tunc et al.
✦ AI-curated · Sources linked
Case in brief
Two brothers from a consanguineous family presented with recurrent episodes of atypical hemolytic uremic syndrome (aHUS) characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. Genetic analysis revealed a homozygous CD46 variant associated with aHUS. Notably, they also exhibited symptoms of alkaptonuria (AKU), confirmed by genetic testing for a homozygous HGD variant. Both patients achieved hematologic remission and maintained renal function without dialysis.
What made this case unusual
This case uniquely describes the coexistence of atypical hemolytic uremic syndrome and alkaptonuria in siblings, highlighting a complex diagnostic challenge.
Diagnostic / clinical pearl
Persistent black discoloration of urine in patients with TMA should prompt consideration of additional inherited disorders, not solely hemolysis.
Why it matters
Recognizing coexisting inherited diseases in consanguineous families can enhance diagnostic accuracy and improve patient management.