家族性噬血细胞性淋巴组织细胞增生症分子遗传学及诊疗研究进展

吕茜倩,胡坚

中国当代儿科杂志 ›› 2013, Vol. 15 ›› Issue (11) : 965-969.

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中国当代儿科杂志 ›› 2013, Vol. 15 ›› Issue (11) : 965-969. DOI: 10.7499/j.issn.1008-8830.2013.11.009
遗传性疾病专题

家族性噬血细胞性淋巴组织细胞增生症分子遗传学及诊疗研究进展

  • 吕茜倩,胡坚
作者信息 +

Research advances in molecular genetics and treatment of familial hemophagocytic lymphohistiocytosis

  • LV Xi-Qian, HU Jian
Author information +
文章历史 +

摘要

噬血细胞性淋巴组织细胞增生症(HLH)是一组以淋巴细胞、组织细胞增生伴噬血细胞增多而引起多脏器浸润及全血细胞减少为特征的综合征,多威胁生命。HLH分为原发性(又称家族性)和继发性HLH。家族性HLH发病年龄常见于婴幼儿,多与遗传基因的缺陷有关。本文在分子遗传学基础上主要对PRF1、UNC13D、STX11和STXBP2等9种家族性HLH相关基因最近研究进展进行整理,并总结了家族性HLH诊疗方法,以增强对该病的认识与了解。

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome characterized by pancytopenia and multiple organ infiltrations of lymphocytes and histiocytes with proliferation and hemohpagocytic activity. HLH is classified as primary (or familial) and secondary. Familial HLH is common in infants and young children, and is related to genetic defects. This article aims to review research advances on PRF1, UNC13D, STX11 and STXBP2, as well as the other 5 genes associated with familial HLH based on molecular genetics, and to summarize diagnosis and treatment methods for this disease.

关键词

家族性噬血细胞性淋巴组织细胞增生症 / 分子遗传学 / 诊断 / 治疗

Key words

Familial hemophagocytic lymphohistiocytosis / Molecular genetics / Diagnosis / Treatment

引用本文

导出引用
吕茜倩,胡坚. 家族性噬血细胞性淋巴组织细胞增生症分子遗传学及诊疗研究进展[J]. 中国当代儿科杂志. 2013, 15(11): 965-969 https://doi.org/10.7499/j.issn.1008-8830.2013.11.009
LV Xi-Qian, HU Jian. Research advances in molecular genetics and treatment of familial hemophagocytic lymphohistiocytosis[J]. Chinese Journal of Contemporary Pediatrics. 2013, 15(11): 965-969 https://doi.org/10.7499/j.issn.1008-8830.2013.11.009

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