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

Nozawa, Akifumi, MD*; Ozeki, Michio, MD, PhD*; Hori, Tomohiro, MD, PhD*; Kawamoto, Norio, MD, PhD*; Hirayama, Masahiro, MD, PhD; Azuma, Eiichi, MD, PhD†,‡; Fukao, Toshiyuki, MD, PhD*

Journal of Pediatric Hematology/Oncology: November 2018 - Volume 40 - Issue 8 - p e544–e546
doi: 10.1097/MPH.0000000000000986
Online Articles: Clinical and Laboratory Observations

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.

*Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu University, Gifu

Departments of Pediatrics

Pediatrics and Cell Transplantation, Mie University Graduate School of Medicine, Tsu, Japan

Supported in part by a Grant-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science and Technology of Japan (25461587); a Health and Labour Science Research Grant for Research on Intractable Diseases from the Ministry of Health, Labour and Welfare of Japan received by M.O.; and Practical Research Project for Rare/Intractable Diseases from Japan’s Agency for Medical Research and Development, AMED (15Aek0109057h0102).

The authors declare no conflict of interest.

Reprints: Michio Ozeki, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido 1-1, Gifu 501-1194, Japan (e-mail:

Received April 7, 2017

Accepted July 9, 2017

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