Henter J I, Samuelsson A, Ericson K, Nilsson-Ardnor S, Elinder G, Fadeel B
Astrid Lindgrens barnsjukhus, Karolinska sjukhuset.
Lakartidningen. 2000 Mar 22;97(12):1405-8.
Familial hemophagocytic lymphohistiocytosis (FHL) is an invariably fatal disease typically seen in infancy and early childhood, with a median survival without therapy of two months. It is characterized by prolonged fever, hepatosplenomegaly, cytopenia, and deficient NK-cell activity and T-cell cytotoxic capacity. Severe neurological symptoms as well as coagulation disorders and abnormalities in liver function and lipid status may also develop. Since the mid 1980's there has been a remarkable increase in our understanding of this disease. In a large-scale international collaborative effort mediated through the Histiocyte Society, diagnostic criteria and an international treatment protocol (HLH-94) based on immunochemotherapy and BMT have been developed. A large proportion of affected children can now be cured and, moreover, successful chemotherapy in utero of FHL has been achieved. It has been shown that the symptoms and signs are mediated through a pronounced hypercytokinemia. Previous suggestions that FHL may be caused by a deficiency in apoptosis were recently confirmed when perforin gene defects were described, which may well explain the disastrous lymphohistiocytic accumulation and subsequent T-cell activation.
家族性噬血细胞性淋巴组织细胞增生症（FHL）是一种通常在婴儿期和幼儿期出现的致命疾病，未经治疗的中位生存期为两个月。其特征为长期发热、肝脾肿大、血细胞减少以及自然杀伤细胞（NK 细胞）活性和 T 细胞细胞毒性能力不足。还可能出现严重的神经症状以及凝血障碍、肝功能异常和脂质状态异常。自 20 世纪 80 年代中期以来，我们对这种疾病的认识有了显著提高。通过组织细胞协会介导的一项大规模国际合作努力，已经制定了基于免疫化疗和骨髓移植（BMT）的诊断标准和国际治疗方案（HLH - 94）。现在很大一部分患病儿童能够被治愈，此外，还实现了对 FHL 在子宫内的成功化疗。研究表明，症状和体征是由明显的高细胞因子血症介导的。当描述穿孔素基因缺陷时，先前关于 FHL 可能由细胞凋亡缺陷引起的推测最近得到了证实，这很可能解释了灾难性的淋巴组织细胞积聚以及随后的 T 细胞激活。
