An unusual trilogy: a case of comorbid aHUS, Fabry disease, and hypertrophic cardiomyopathy.

ABSTRACT: A 7-year-old boy was admitted to the hospital for abdominal pain, vomiting, and edema. Examinations revealed microvascular hemolytic anemia, thrombocytopenia, acute kidney injury, and hypocomplementemia. He was diagnosed with atypical hemolytic uremic syndrome (aHUS), and treatment was initiated with a methylprednisolone pulse, followed by cyclophosphamide, mycophenolate mofetil, and fresh frozen plasma infusion, leading to remission. At the age of 12, he developed numbness in his fingers and pain in his toes while being febrile. At the age of 17, he presented with aggravated toe pain, renal impairment (creatinine concentration of 156 μmol/L; eGFR of 38.4 mL/min/1.73 m²), and remarkable left ventricular hypertrophy accompanied by obstruction of the left ventricular outflow tract

SUBMITTER: Li Q 

PROVIDER: S-EPMC12900690 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature