A Heterozygous CFHR3-CFHR1 Gene Deletion in a Pediatric Patient With Transplant-associated Thrombotic Microangiopathy Who was Treated With Eculizumab. Issue 8 (November 2018)

• Record Type: Journal Article
• Authors: Nozawa, Akifumi; Ozeki, Michio; Hori, Tomohiro; Kawamoto, Norio; Hirayama, Masahiro; Azuma, Eiichi; Fukao, Toshiyuki
• Is Part Of: Journal of pediatric hematology/oncology. Volume 40:Issue 8(2018)
• Publication Date: 2018-11
• Subjects: eculizumab -- neuroblastoma -- atypical hemolytic uremic syndrome -- autologous hematopoietic stem cell transplantation -- complement system; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; 618.9215
• DOI: 10.1097/MPH.0000000000000986
• Languages: English
• ISSNs: 1077-4114

Abstract

Abstract : Complement system dysregulation, such as complement Factor H (CFH) autoantibodies and deletions in CFH-related ( CFHR ) genes 3 and 1, might cause transplant-associated thrombotic microangiopathy (TA-TMA). The use of eculizumab, a terminal complement inhibitor, could be a targeted therapy for TA-TMA. We report a 1-year-old girl who developed TA-TMA, just after autologous peripheral blood stem cell transplantation in neuroblastoma therapy. Eculizumab improved TA-TMA. Investigation for the complement alternative pathway showed a heterozygous CFHR3 - CFHR1 gene deletion, which is involved in complement activation. The patient might develop TA-TMA as a result of complement regulatory gene mutation.