June 2020 — Molecular Pathology

By MCL Education • June 9, 2020

Share this:

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 Mayo Clinic
	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

MCL Education

This post was developed by our Education and Technical Publications Team.