Krivokapić-Dokmanović Lidija, Krstovski Nada, Janković Srdja, Lazić Jelena, Radlović Nedeljko, Janić Dragana
Srp Arh Celok Lek. 2012 Mar-Apr;140(3-4):191-7. doi: 10.2298/sarh1204191k.
Haemophagocytic lymphohistiocytosis (HLH) is a disorder characterised by long-standing fever, splenomegaly and bicytopoenia or pancytopoenia. Lymphadenopathy, jaundice and neurological symptoms mayalsooccur. HLH may ensue in various forms of innate or acquired immunodeficiency with impaired cytotoxic lymphocyte function resulting in excessive macrophage activation.
To describe and analyse clinical characteristics of patients treated for HLH at the University Children's Hospital of Belgrade from August 2000 to August 2010.
Retrospective analysis of medical records.
Diagnosis of HLH was established in 13 children (five boys and eight girls) aged from one month to 14 years. In six children HLH was secondary (to visceral leishmaniasis in two, Ebstein-Barr virus infection in one, Langerhans' cell histiocytosis in one and systemic juvenile rheumatoid arthritis in two). Of the remaining seven patients, genes for perforin and syntaxin 11 were examined in two and no mutations were found. Of the remaining seven patients, genes encoding perforin and syntaxin 11 were analyzed in two, but no mutations were found. All children had fever, splenomegaly, cytopoenias, hyperferritinaemia and hypertriglyceridaemia, but haemophagocytosis was seen in only six (46.1%). Six children were cured (four with secondary HLH and two with primary HLH).Two children are undergoing treatment, while five succumbed (three before treatment could be administered and two due to complications). In four of the six cured children, HLH arose in the first year of life. Cure rate in those who underwent haematopoietic stem cell transplantation was 2/3.
Results underscore the importance of timely diagnosis and treatment of HLH, warranting that in all children with fever, splenomegaly and/or cytopoenias, with or without haemophagocytosis, HLH be actively sought.
噬血细胞性淋巴组织细胞增生症（HLH）是一种以长期发热、脾肿大和双血细胞减少或全血细胞减少为特征的疾病。也可能出现淋巴结病、黄疸和神经症状。HLH可能继发于各种先天性或获得性免疫缺陷，细胞毒性淋巴细胞功能受损导致巨噬细胞过度活化。
描述和分析2000年8月至2010年8月在贝尔格莱德大学儿童医院接受HLH治疗的患者的临床特征。
对病历进行回顾性分析。
确诊HLH的患儿有13例（5例男孩，8例女孩），年龄从1个月至14岁。6例患儿的HLH为继发性（2例继发于内脏利什曼病，1例继发于EB病毒感染，1例继发于朗格汉斯细胞组织细胞增多症，2例继发于系统性幼年类风湿关节炎）。其余7例患者中，2例检测了穿孔素和 syntaxin 11基因，未发现突变。所有患儿均有发热、脾肿大、血细胞减少、高铁蛋白血症和高甘油三酯血症，但仅6例（46.1%）可见噬血细胞现象。6例患儿治愈（4例继发性HLH，2例原发性HLH）。2例患儿正在接受治疗，5例死亡（3例在开始治疗前死亡，2例死于并发症）。6例治愈患儿中有4例在出生后第一年发病。接受造血干细胞移植的患儿治愈率为三分之二。
结果强调了及时诊断和治疗HLH的重要性，保证在所有有发热、脾肿大和/或血细胞减少的患儿中，无论有无噬血细胞现象，都应积极排查HLH。
