Schwinger W, Urban C, Lackner H, Benesch M, Kerbl R, Dornbusch H J, Sovinz P, Kögler G
Department of Pediatrics, University of Graz, Austria.
Bone Marrow Transplant. 1998 Aug;22(4):393-6. doi: 10.1038/sj.bmt.1701338.
A diagnosis of familial hemophagocytic lymphohistiocytosis (FHL) was established in an 18-month-old boy who presented with prolonged fever of unknown origin, severe pancytopenia, hepatosplenomegaly and hypofibrinogenemia. Serum levels of ferritin and soluble interleukin-2 receptor (SIL2R) were highly elevated, and the number of natural killer (NK) cells was markedly decreased. An allogeneic stem cell donor was neither found in the family nor in unrelated donor registries; however, an umbilical cord blood (UCB) donor request revealed a 5/6 HLA-matched UCB. After conditioning with busulphan 16 mg/kg body weight (BW), cyclophosphamide 120 mg/kg BW and etoposide (VP-16) 900 mg/m2 the patient received 19.6 x 10(7)UCB nucleated cells/kg BW. White blood count (WBC) reached 1.0 x 10(9)/l on day +45. Chimerism studies showed full and permanent hematopoietic and lymphopoietic engraftment on day +16. However despite full engraftment the patient still experienced two severe relapses of his disease after stem cell transplantation with the highest ferritin level in the range of 10 3967 microg/l (n = 7-142). NK cell function appeared only 6 months after UCB transplantation followed by a decrease of FHL markers and resolution of disease activity. This clinical outcome indicates that unless competent immunologic engraftment after transplantation is established, FHL is capable of relapsing even if complete three-lineage engraftment is achieved.
一名18个月大的男孩被诊断为家族性噬血细胞性淋巴组织细胞增生症（FHL），他出现了不明原因的长期发热、严重全血细胞减少、肝脾肿大和低纤维蛋白原血症。血清铁蛋白和可溶性白细胞介素-2受体（SIL2R）水平显著升高，自然杀伤（NK）细胞数量明显减少。在家族中及无关供者登记处均未找到异基因干细胞供者；然而，脐血（UCB）供者检索发现了一份HLA 5/6相合的脐血。患者接受了16 mg/kg体重（BW）的白消安、120 mg/kg BW的环磷酰胺和900 mg/m2的依托泊苷（VP-16）预处理，随后接受了19.6×10(7)个/kg BW的脐血有核细胞。白细胞计数（WBC）在+45天时达到1.0×10(9)/l。嵌合体研究显示在+16天时实现了完全且永久的造血和淋巴细胞植入。然而，尽管实现了完全植入，患者在干细胞移植后仍经历了两次严重复发，最高铁蛋白水平达10 3967μg/l（n = 7 - 142）。NK细胞功能在脐血移植后6个月才出现，随后FHL标志物减少，疾病活动消退。这一临床结果表明，除非移植后建立起有效的免疫植入，否则即使实现了完全的三系植入，FHL仍有可能复发。
