Igarashi Keita, Hori Tsukasa, Yamamoto Masaki, Hatakeyama Naoki, Iesato Kotoe, Takebayashi Akira, Kizawa Toshitaka, Miyamae Takako, Kawamoto Manabu, Kawasaki Yukihiko
Department of Pediatrics, Sapporo Medical University School of Medicine.
Department of Pediatrics, Hidaka Municipal Monbetsu National Health Insurance Hospital, Hidaka.
J Pediatr Hematol Oncol. 2021 Nov 1;43(8):e1136-e1139. doi: 10.1097/MPH.0000000000002081.
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder accompanied by periodic fever and sterile serositis. We report a 5-year-old boy with FMF, who underwent second unrelated cord blood transplantation (CBT) for recurrent familial hemophagocytic lymphohistiocytosis. Periodic attacks of fever and abdominal pain started 6 months after CBT. He was diagnosed with FMF according to the Tel-Hashomer criteria and treated successfully with colchicine. Genetic testing showed heterozygous p.E148Q mutation in the MEFV gene from both donor and recipient cells. Several CBT-related factors including use of an immunosuppressant can potentially be involved in the pathogenesis of FMF in our patient.
