A Heterozygous CFHR3-CFHR1 Gene Deletion in a Pediatric Patient With Transplant-associated Thrombotic Microangiopathy Who was Treated With Eculizumab.

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.

• Authors: Akifumi Nozawa, Michio Ozeki, Tomohiro Hori, Norio Kawamoto, Masahiro Hirayama, Eiichi Azuma, Toshiyuki Fukao
• Journal: Journal of pediatric hematology/oncology (J Pediatr Hematol Oncol) Vol. 40 Issue 8 Pg. e544-e546 (11 2018) ISSN: 1536-3678 [Electronic] United States
• PMID: 28991129 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Antibodies, Monoclonal, Humanized
• Blood Proteins
• CFHR1 protein, human
• CFHR3 protein, human
• Complement C3b Inactivator Proteins
• eculizumab

Topics

• Antibodies, Monoclonal, Humanized (administration & dosage)
• Autografts
• Blood Proteins (genetics)
• Complement C3b Inactivator Proteins (genetics)
• Female
• Gene Deletion
• Heterozygote
• Humans
• Infant
• Neuroblastoma (genetics, therapy)
• Stem Cell Transplantation (adverse effects)
• Thrombotic Microangiopathies (drug therapy, etiology, genetics)