Atypical hemolytic uremic syndrome with C3 mutation: A case report and literature review.

INTRODUCTION

Atypical hemolytic uremic syndrome (aHUS) is characterized by hemolytic anemia, thrombocytopenia, and acute kidney injury. Uncontrolled activation of the complement system induced by single or combined complement gene mutations is one of the mechanisms leading to the pathogenesis of aHUS.

CASE PRESENTATION: We report a case of a 26-year-old female with a C3 heterozygous gene mutation (p.Asn153Asn). The patient was found to have low complement H factor (CFH) but normal levels of anti-CFH autoantibody. She was treated primarily with plasma exchange and plasma infusion. The patient did not relapse during a 1-year follow-up.

CONCLUSION

This is the first case of a novel C3 mutation (p.Asn153Asn) in a patient with aHUS. Further studies are needed to confirm the association between this mutation and the CFH level.