June 2020 — Molecular Pathology
A previously healthy 15 month-old female presented to ED with persistent non-bloody non-bilious vomiting, fever, and edema. Her serum creatinine was elevated (2.62 mg/dL). CBC showed markedly low hemoglobin (6.1 g/dL), decreased platelet counts (71x109/L). Peripheral blood smear examination revealed marked schistocytosis, consistant with a thrombotic microangiopathy. Normal ADAMTS13 enzyme activity and negative PCR testing for Shiga-toxin supported a diagnosis of atypical hemolytic uremic syndrome (aHUS). Subsequent genetic testing identified a pathogenic variant in CFH (complement factor-H), and a variant of uncertain significance in CHFR5.
|Abdulrahman Saadalla, M.B., B.Ch.
Resident, Clinical Pathology
|Ann Moyer, M.D., Ph.D.
Consultant, Laboratory Genetics and Genomics
Associate Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Science