Torii Yuka, Yagasaki Hiroshi, Tanaka Hidenori, Mizuno Seiji, Nishio Nobuhiro, Muramatsu Hideki, Hama Asahito, Takahashi Yoshiyuki, Kojima Seiji
Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Department of Pediatrics, Komaki City Hospital, Komaki, Japan.
Int J Hematol. 2009 Sep;90(2):174-176. doi: 10.1007/s12185-009-0387-1. Epub 2009 Aug 7.
Kabuki syndrome (KS) is often associated with autoimmune abnormalities, such as idiopathic thrombocytopenic purpura (ITP), autoimmune hemolytic anemia, leukoplakia and thyroiditis, as well as congenital anomalies. We herein present a KS patient with refractory ITP who achieved durable and complete remission in response to a total of four once-monthly infusions of rituximab. KS patients are often more susceptible to infection, so splenectomy should be avoided. Therefore, rituximab therapy is an alternative option for KS patients with ITP who fail to respond to first-line therapy.
歌舞伎综合征（KS）常与自身免疫异常相关，如特发性血小板减少性紫癜（ITP）、自身免疫性溶血性贫血、白斑病和甲状腺炎，以及先天性异常。我们在此报告一例难治性ITP的KS患者，该患者在总共接受了4次每月1次的利妥昔单抗输注后实现了持久且完全缓解。KS患者通常更容易感染，因此应避免脾切除术。所以，利妥昔单抗治疗是一线治疗无效的ITP的KS患者的一种替代选择。
