PJSC Human Stem Cells Institute, Moscow, Russia.
Department of Pathological Anatomy with Forensic Medicine Course, I.P. Pavlov Ryazan State Medical University, Ryazan, Russia.
Bone Marrow Transplant. 2017 Sep;52(9):1249-1252. doi: 10.1038/bmt.2017.46. Epub 2017 Mar 27.
The only proven cure for Shwachman-Diamond syndrome (SDS) bone marrow failure is allogeneic hematopoietic stem cell transplantation (HSCT). However HSCT with donors other than HLA-identical siblings is associated with high mortality and unfavorable prognosis. This paper presents the first experience of HSCT treatment of SDS using an unaffected HLA-identical sibling produced through preimplantation genetic diagnosis (PGD). The patient was a 6-year-old blood transfusion-dependent SDS baby girl with secondary myelodysplastic syndrome, for whom no HLA-identical donor was available. As a result of PGD, two unaffected HLA matched embryos were identified; one of them was randomly selected for transfer, resulting in a clinical pregnancy and birth of an apparently healthy child. The patient underwent allogeneic transplantation of cord blood hematopoietic stem cells, together with bone marrow from this sibling, resulting in complete hemopoietic recovery. The patient was no longer transfusion-dependent and had normal blood values 160 days after transplantation.
Shwachman-Diamond 综合征（SDS）骨髓衰竭唯一被证实的治疗方法是异基因造血干细胞移植（HSCT）。然而，与 HLA 完全匹配的同胞以外的供体进行 HSCT 与高死亡率和不良预后相关。本文介绍了首例通过植入前遗传学诊断（PGD）产生的未受影响的 HLA 完全匹配的同胞进行 HSCT 治疗 SDS 的经验。该患者是一名 6 岁的依赖输血的 SDS 女婴，患有继发性骨髓增生异常综合征，且没有 HLA 完全匹配的供体。由于 PGD，鉴定出两个未受影响的 HLA 匹配胚胎；其中一个随机选择进行转移，导致临床妊娠和健康婴儿的出生。患者接受了来自该同胞的脐带血造血干细胞和骨髓的异基因移植，导致完全造血恢复。移植后 160 天，患者不再依赖输血，血液值恢复正常。
