Department of Hematology/Oncology, Wakayama Medical University, Japan.
Second Department of Surgery, Wakayama Medical University, Japan.
Intern Med. 2021 Jun 15;60(12):1927-1933. doi: 10.2169/internalmedicine.6694-20. Epub 2021 Feb 1.
Kabuki syndrome is characterized by multiple systemic anomalies and intellectual disability. It is complicated with immunodeficiencies and autoimmune disorders. The syndrome is caused by a mutation in the KMT2D gene. We herein report a case of a Kabuki syndrome with developing immune thrombocytopenic purpura (ITP) and progressive splenomegaly. Laparoscopic splenectomy was performed and the patients' symptoms quickly disappeared with platelet recovery. After this operation, the patient had no severe complications. A sequence analysis of the KMT2D gene identified a pathogenic mutation frequently associated with ITP. Laparoscopic splenectomy is therefore considered to be a good therapeutic option for recurrent ITP and symptomatic splenomegaly with Kabuki syndrome.
歌舞伎综合征的特征是多种系统异常和智力障碍。它常伴有免疫缺陷和自身免疫性疾病。该综合征是由 KMT2D 基因突变引起的。本文报告了一例伴有免疫性血小板减少性紫癜（ITP）和进行性脾肿大的歌舞伎综合征病例。行腹腔镜脾切除术，患者症状迅速消失，血小板恢复。术后，患者无严重并发症。KMT2D 基因突变的序列分析发现了一种与 ITP 密切相关的致病性突变。因此，腹腔镜脾切除术被认为是治疗复发性 ITP 和伴有歌舞伎综合征的症状性脾肿大的一种较好的治疗选择。
