通讯作者: 李晓莺, lxy_jn@email.sdu.edu.cn

DOI：10.12201/bmr.202508.00022

A Case of Familial Hemophagocytic Lymphohistiocytosis Type 3 Caused by UNC13D Mutation with Literature Review

• 摘要：家族性噬血细胞性淋巴组织细胞增生症（FHL）是一种由颗粒依赖的胞吐途径相关基因突变引起的过度炎症性疾病，通常在1岁以内发病，新生儿期发病较少，临床表现不典型，病情进展迅速，未及时诊治可能导致死亡。本报告介绍了一例新生儿期起病的家族性噬血细胞性淋巴组织细胞增生症3型（FHL3）型患儿的诊疗过程，并对已报道的11例新生儿期发病患儿的临床特征进行总结。本例患儿表现为发热、肝脾肿大及血常规三系减低，通过基因检测确诊为FHL3，基因突变为UNC13D基因c.118-308C>T纯合突变。接受治疗后，患儿病情较前缓解。本报告还探讨了FHL3的治疗方法，强调了造血干细胞移植（HSCT）在FHL3患儿治疗中的重要性。早期诊断和规范化治疗是提高FHL3患儿预后的关键。

  关键词： 家族性噬血细胞性淋巴组织细胞增多症；新生儿；UNC13D基因突变；早期诊断; ; ; 

   

  Abstract: Familial Hemophagocytic Lymphohistiocytosis (FHL) is an overactive inflammatory disorder caused by mutations in genes associated with the granule-dependent exocytosis pathway. It typically presents before the age of 1, with cases in neonates being less common. The clinical manifestations are often non-specific, and the disease progresses rapidly; without timely diagnosis and treatment, it can lead to death. This report details the diagnostic and treatment process for a neonate with Familial Hemophagocytic Lymphohistiocytosis Type 3 (FHL3), along with a summary of the clinical features of 11 previously reported neonates with FHL. The patient in this case presented with fever, hepatosplenomegaly, and pancytopenia. Genetic testing confirmed the diagnosis of FHL3, revealing a homozygous c.118-308C>T mutation in the UNC13D gene. After treatment, the patients condition showed significant improvement. The report also explores treatment options for FHL3, highlighting the critical role of hematopoietic stem cell transplantation (HSCT) in managing FHL3 patients. Early diagnosis and standardized treatment are essential for improving the prognosis of FHL3 patients.

  Key words: Familial Hemophagocytic Lymphohistiocytosis; Neonate; UNC13D Gene Mutation; Early Diagnosis

  提交时间：2025-08-09

  版权声明：作者本人独立拥有该论文的版权，预印本系统仅拥有论文的永久保存权利。任何人未经允许不得重复使用。
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• 序号	提交日期	编号	操作
  1	2025-07-21	bmr.202508.00022V1	下载

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