家族性噬血细胞性淋巴组织细胞增生症分子遗传学-中国当代儿科杂志.pdfVIP

第 15 卷 第 11 期 中国当代儿科杂志 Vol.15 No.11 2013 年 11 月 Chin J Contemp Pediatr Nov. 2013 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 1 2 吕茜倩 　综述　　胡坚 　审校 （1. 天津中医药大学研究生院，天津　300193；2. 天津市儿童医院，天津　300074） ［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。 ［中国当代儿科杂志，2013，15（11）：965-969］ ［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 Research advances in molecular genetics and treatment of familial hemophagocytic lymphohistiocytosis LV Xi-Qian, HU Jian. Graduate School of Tianjin University of Traditional Chinese Medicine, Tianjin 300193, China (Email: paopao.8818@163.com) 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. [Chin J Contemp Pediatr,