Adult hemophagocytic syndrome with mutations in UNC13D and MYO5A genes: a case report and literature review
10.3760/cma.j.cn101721-20221005-000449
- VernacularTitle:UNC13D及MYO5A基因突变的成年噬血细胞综合征1例及文献复习
- Author:
Lingling YU
1
;
Tao WU
;
Dongfeng MAO
;
Feng XUE
;
Wenhui LIU
;
Miao HE
;
Zonghui WANG
Author Information
1. 解放军联勤保障部队第九四〇医院血液病内科，兰州 730050
- Keywords:
Hemophagocytic syndrome;
Hemo-phagocytic lymphohistocytosis;
UNC13D gene;
MYO5A gene
- From:
Clinical Medicine of China
2023;39(1):8-13
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the pathogenesis of primary hemophagocytic syndrome with UNC13D and MYO5A gene mutations.Methods:A case of adult hemophagocytic syndrome with gene mutation of UNC13D and MYO5A admitted to The 940th Hospital of the Joint Logistic Support Force of the PLA on January 28, 2022 was retrospectively analyzed in terms of laboratory examination, gene atlas of its close relatives and prognosis, and related literature was reviewed.Results:The patient was finally diagnosed with primary hemophagocytic syndrome, and chemotherapy was performed twice with hemophagocytic lymphohistiocytosis(HLH)-2004 regimen. The HLA matching of his cytoplasm was semi-compatible. Considering that his cytoplasm carried blood-macrophage related genes, it was not suitable to be selected as a donor, and there were no other suitable relatives. He was transferred to another hospital for allogeneic hematopoietic stem cell transplantation, but failed to receive allogeneic hematopoietic stem cell transplantation during telephone follow-up, and died.Conclusion:The gene mutation of primary hemophagocytic syndrome is the gold standard for the diagnosis of primary HLH. There may be dual gene inheritance pattern in primary HLH, and the combination of immune disorder caused by viral infection and genetic factors may lead to the pathogenesis of primary HLH.
