Gonzalez-Llano Oscar, Jaime-Pérez Jose, Cantu-Rodríguez Olga, Mancias-Guerra Consuelo, Gutierrez-Aguirre Homero, Herrera-Garza Jose, Gomez-Almaguer David
School of Medicine and University Hospital, Dr. Jose E. Gonzalez, Universidad Autonoma de Nuevo Leon, Monterrey, Mexico.
Eur J Haematol. 2006 Oct;77(4):341-4. doi: 10.1111/j.1600-0609.2006.00700.x. Epub 2006 Jul 19.
Hemophagocytic lymphohistiocytosis (HLH) is an uncommon disorder, usually lethal without allogeneic stem cell transplantation (SCT).
We report a 9-month-old boy, the first child of consanguineous parents, diagnosed with HLH and neurological involvement demonstrated by magnetic resonance imaging (MRI), who received an allogeneic SCT from his HLA genetically matched father. Transplant was performed after a reduced-intensity conditioning (RIC) regimen consisting of cyclophosphamide, fludarabine, and melphalan. Graft vs. host disease (GVHD) prophylaxis included cyclosporine a and methotrexate.
An absolute neutrophil count of 0.5 x 10(9)/L was documented on day +20 and a platelet count >20 x 10(9)/L was shown by day 33. Full donor chimerism was showed on day +175. A follow-up brain MRI was reported normal. Twenty months after SCT, the child shows no evidence of HLH or GVHD activity, and has a normal psychomotor development.
Given the reduced toxicity of SCT with RIC, it could represent an attractive transplant method for children with HLH, in whom myeloablation plays no role in disease eradication, and in whom mixed chimerism may be enough to cure the disease.
噬血细胞性淋巴组织细胞增生症（HLH）是一种罕见疾病，若无同种异体干细胞移植（SCT）通常会致命。
我们报告了一名9个月大的男孩，他是近亲父母的第一个孩子，被诊断为HLH且磁共振成像（MRI）显示有神经受累，他接受了来自与其HLA基因匹配的父亲的同种异体SCT。移植在由环磷酰胺、氟达拉滨和美法仑组成的减低强度预处理（RIC）方案后进行。移植物抗宿主病（GVHD）预防包括环孢素A和甲氨蝶呤。
在+20天时记录到绝对中性粒细胞计数为0.5×10⁹/L，在第33天时血小板计数>20×10⁹/L。在+175天时显示完全供体嵌合。随访脑MRI报告正常。SCT后20个月，该儿童无HLH或GVHD活动迹象，且精神运动发育正常。
鉴于RIC-SCT的毒性降低，它可能是HLH患儿一种有吸引力的移植方法，对于HLH患儿，清髓在疾病根除中不起作用，混合嵌合可能足以治愈疾病。
