Favorable long-term outcomes of isolated liver transplantation in a child with atypical hemolytic uremic syndrome caused by a novel complement factor H mutation

Atypical hemolytic uremic syndrome (aHUS) is a rare syndrome characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury that is usually caused by complement dysregulation. Complement factor H (CFH) is a regulator of the complement system produced in the liver, and CFH gene mutations are the most frequent causes of aHUS. To date, the therapeutic options for aHUS with CFH mutations have consisted of plasma infusions, plasma exchange, kidney transplantation, isolated liver transplantation, or combined liver and kidney transplantation. Recently, eculizumab, a humanized monoclonal antibody directed against complement C5, has been proven to be effective against aHUS. However, life-long eculizumab maintenance therapy is usually required for aHUS; therefore, other curative options should be considered. We describe a case of neonatal onset aHUS caused by a novel mutation of CFH and treated with an isolated liver transplantation at the age of 24 months. Nearly 5 years post-transplant, the patient's health has been generally good without evidence of aHUS. This case report suggests that isolated liver transplantation in aHUS patients with CFH mutations and preserved eGFR could be a curative therapeutic option in contrast to long-term eculizumab therapy. .