Starý J, Sedlácek P, Vodvárková S, Poloucková A, Formánková R, Gasová Z, Marinov I
II. dĕtská klinika 2. LF UK a FNM, Praha.
Cas Lek Cesk. 2002 Mar 29;141(6):176-81.
Children suffering from rare inherited disorders can be cured using stem cell transplantation (SCT). For patients where HLA-identical donor could not be found, there is an excellent chance of identifying a family member who shares an identical haplotype with the patient but whose second haplotype is different. This situation is called an HLA-full haplotype mismatch. Risks of haploidentical transplantation are graft rejection and severe graft-versus-host disease (GVHD). Histocompatibility barriers can be overcome by infusing high doses of T-cell depleted peripheral CD34+ stem cells.
Between December 1995 and March 2000, 5 children with rare inherited disorders were transplanted using highly purified CD34+ stem cells from haploidentical parents at the 2nd Department of Pediatrics, University Hospital Motol, Prague. Two children suffered from severe combined immunodeficiency (SCID), one child from malignant osteopetrosis, Wiskott-Aldrich syndrome and hemophagocytic lymphohistiocytosis, respectively. Positive selection of peripheral CD34+ stem cells from G-CSF stimulated donors was performed using the method of immunoabsorbtion (CellPro) (n = 2) or immunomagnetic separation (CliniMACS) (n = 3). Donor type engraftment was achieved in 4 children. In one of them early graft failure has developed successfully managed by second SCT from the same donor. One child with SCID had primary graft failure. Mild acute GVHD with good response to steroid therapy developed in 2 children. Three children are alive and 2 of them are cured. Two children died due to post-transplant complications--CMV pneumonia and encephalitis.
Transplantation of highly purified CD34+ stem cells from haploidentical parents is a reasonable therapeutic option for children with some specific nonmalignant disorders lacking HLA identical donor. Risks of this type of SCT are the graft failure and severe infectious complications due to slow immunological reconstitution in comparison with SCT from HLA identical donors.
患有罕见遗传性疾病的儿童可通过干细胞移植（SCT）治愈。对于无法找到 HLA 完全相同供体的患者，极有可能找到与患者共享一个相同单倍型但第二个单倍型不同的家庭成员。这种情况称为 HLA 完全单倍型不匹配。单倍型相合移植的风险是移植物排斥和严重的移植物抗宿主病（GVHD）。通过输注高剂量 T 细胞去除的外周血 CD34+干细胞可克服组织相容性障碍。
1995 年 12 月至 2000 年 3 月期间，布拉格莫托尔大学医院儿科第二科室使用来自单倍型相合父母的高度纯化 CD34+干细胞，对 5 名患有罕见遗传性疾病的儿童进行了移植。两名儿童患有严重联合免疫缺陷（SCID），一名儿童分别患有恶性骨硬化症、维斯科特-奥尔德里奇综合征和噬血细胞性淋巴组织细胞增生症。使用免疫吸附法（CellPro）（n = 2）或免疫磁珠分离法（CliniMACS）（n = 3）从 G-CSF 刺激的供体中对外周血 CD34+干细胞进行阳性选择。4 名儿童实现了供体型植入。其中一名儿童早期发生移植物失败，通过来自同一供体的第二次 SCT 成功处理。一名患有 SCID 的儿童发生原发性移植物失败。2 名儿童发生轻度急性 GVHD，对类固醇治疗反应良好。3 名儿童存活，其中 2 名治愈。2 名儿童因移植后并发症——巨细胞病毒肺炎和脑炎死亡。
对于缺乏 HLA 相同供体的某些特定非恶性疾病儿童，来自单倍型相合父母的高度纯化 CD34+干细胞移植是一种合理的治疗选择。与 HLA 相同供体的 SCT 相比，这种类型的 SCT 的风险是移植物失败和由于免疫重建缓慢导致的严重感染并发症。
