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.

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Photo of Abdulrahman Saadalla, M.B., B.Ch. Abdulrahman Saadalla, M.B., B.Ch.
Resident, Clinical Pathology
Mayo Clinic
Photo of Ann Moyer, M.D., Ph.D. Ann Moyer, M.D., Ph.D.
Consultant, Laboratory Genetics and Genomics
Mayo Clinic
Associate Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Science

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