A rare sporadic case of C3 gene mutation in 5-month-old baby girl with atypical hemolytic uremic syndrome, with good prognosis

Abstract

Atypical hemolytic uremic syndrome (aHUS) is a rare form of thrombotic microangiopathy representing A, p.(Asp1115Asn). The early recognition and administration of eculizumab are a lifesaving measure. C3 gene mutations are an autosomal dominant inherited pattern, with 50% risk of inheriting this mutation. Therefore, genetic counseling and family member testing are recommended.

Keywords

• Atypical hemolytic uremic syndrome
• eculizumab
• microangiopathy