伴有MUNC13-4突变的家族性噬血细胞性淋巴组织细胞增生症（FHL）致死性同胞病例：病例报告

Fatal sibling cases of familial hemophagocytic lymphohistiocytosis (FHL) with MUNC13-4 mutations: case reports.

作者信息

Nakao Tomohei, Shimizu Takashi, Fukushima Takashi, Saito Makoto, Okamoto Miho, Sugiura Masatoshi, Yamamoto Ken, Ueda Ikuyo, Imashuku Shinsaku, Kobayashi Chie, Koike Kazutoshi, Tsuchida Masahiro, Sumazaki Ryo, Matsui Akira

机构信息

Department of Pediatric Health, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Ibaraki, Japan.

出版信息

Pediatr Hematol Oncol. 2008 Apr-May;25(3):171-80. doi: 10.1080/08880010801938082.

DOI:10.1080/08880010801938082

PMID:18432499

Abstract

The authors report here sibling cases of familial hemophagocytic lymphohistiocytosis (FHL) type 3 that took fatal courses despite intensive treatment. The older brother achieved remission by immunochemotherapy, but a central nervous system lesion occurred before the introduction of allogeneic hematopoietic stem cell transplantation (allo-HSCT). The patient died on day +1 of allo-HSCT due to progression of the disease. The younger brother developed symptoms of hemophagocytic lymphohistiocytosis mimicking neonatal hemochromatosis at birth. He died without a chance to receive allo-HSCT. Both siblings showed low natural killer cell (NK) activity and the compound heterozygous Munc13-4 gene mutations 1596+1 and 1723insA were identified postmortem in the younger brother. With recent progress in the molecular diagnosis of FHL, prompt and most appropriate therapeutic measures should be introduced to improve the prognosis of FHL patients.

摘要

作者在此报告3型家族性噬血细胞性淋巴组织细胞增生症（FHL）的同胞病例，尽管进行了强化治疗，但仍呈致命病程。哥哥通过免疫化疗实现缓解，但在进行异基因造血干细胞移植（allo-HSCT）之前出现了中枢神经系统病变。患者在allo-HSCT第+1天因疾病进展死亡。弟弟出生时出现类似新生儿血色素沉着症的噬血细胞性淋巴组织细胞增生症症状。他没有机会接受allo-HSCT就去世了。两个同胞均表现出低自然杀伤细胞（NK）活性，死后在弟弟身上鉴定出复合杂合Munc13-4基因突变1596+1和1723insA。随着FHL分子诊断的最新进展，应采取迅速且最适当的治疗措施以改善FHL患者的预后。