Tanaka Y, Hosoi G, Ishii T, Shimoyama T, Fujimura Y, Sako M
Department of Pediatrics, Osaka City General Hospital, Osaka, Japan.
Bone Marrow Transplant. 1998 Sep;22(5):511-3. doi: 10.1038/sj.bmt.1701371.
Familial erythrophagocytic lymphohistiocytosis (FEL) is an autosomal recessive disorder that can only be corrected by stem cell transplantation. One of our patients with FEL in second complete remission underwent successful cord blood stem cell transplantation (CBSCT); the donor was an HLA one-locus mismatched and unrelated individual. The conditioning regimen consisted of BU/CY/VP-16. The transfused cell dose was 6.8 x 10(7)/kg, which contained 1.36 x 10(5)/kg of CD34 cells and 3.4 x 10(4)/kg of CFU-GM. After CBSCT, there were no major infectious complications. Acute grade I GVHD was well controlled. Neutrophil counts reached >0.5 x 10(9)/l by day 20 and platelet counts reached >50 x 10(9)/l by day 40. Deficient natural killer activity returned to normal after the transplant. The patient recovered well more than 7 months after receiving CBSCT, without showing evidence of chronic GVHD. We recommend CBSCT for FEL patients who have no HLA-matched siblings or unrelated donors.
家族性噬血细胞性淋巴组织细胞增生症（FEL）是一种常染色体隐性疾病，只能通过干细胞移植来纠正。我们的一名处于第二次完全缓解期的FEL患者接受了成功的脐血干细胞移植（CBSCT）；供者为HLA一位点不相合的无关个体。预处理方案包括白消安/环磷酰胺/依托泊苷。输入的细胞剂量为6.8×10⁷/kg，其中含有1.36×10⁵/kg的CD34细胞和3.4×10⁴/kg的粒-巨噬细胞集落形成单位（CFU-GM）。CBSCT后，无严重感染并发症。急性Ⅰ级移植物抗宿主病（GVHD）得到良好控制。中性粒细胞计数在第20天达到>0.5×10⁹/L，血小板计数在第40天达到>50×10⁹/L。移植后缺乏的自然杀伤细胞活性恢复正常。该患者在接受CBSCT后7个多月恢复良好，未显示慢性GVHD的证据。我们建议对没有HLA相合同胞或无关供者的FEL患者进行CBSCT。
