First experience of hematopoietic stem cell transplantation treatment of Shwachman-Diamond syndrome using unaffected HLA-matched sibling donor produced through preimplantation HLA typing

被引：8

作者：

Isaev, A. A. ^{[1
]}

Deev, R. V. ^{[1
,2
]}

Kuliev, A. ^{[3
]}

Plaxa, I. L. ^{[1
]}

Stancheva, N. V. ^{[4
]}

Borovkova, A. S. ^{[4
]}

Potapov, I. V. ^{[1
]}

Pomerantseva, E. A. ^{[1
]}

Chogovadze, A. G. ^{[1
]}

Boyarsky, K. Y. ^{[5
]}

Semenenko, A. E. ^{[5
]}

Mikhailov, A. V. ^{[6
]}

Shevchenko, K. G. ^{[1
]}

Prikhodko, A. V. ^{[1
]}

Rechitsky, S. ^{[3
]}

Paina, O. V. ^{[4
]}

Barchatov, I. M. ^{[4
]}

Zubarovskaya, L. S. ^{[4
]}

Verlinsky, O. ^{[3
]}

Bozo, I. Y. ^{[1
]}

Afanasyev, B. V. ^{[4
]}

机构：

[1] PJSC Human Stem Cells Inst, 3-2 Gubkina St, Moscow 119333, Russia

[2] IP Pavlov Ryazan State Med Univ, Dept Pathol Anat, Forens Med Course, Ryazan, Russia

[3] Reprod Genet Inst, Chicago, IL USA

[4] First IP Pavlov St Petersburg State Med Univ, R Gorbacheva Mem Res Inst Pediat Oncol Hematol &, St Petersburg, Russia

[5] IVF Clin Genesis, St Petersburg, Russia

[6] Matern Home 17, St Petersburg, Russia

来源：

BONE MARROW TRANSPLANTATION | 2017年 / 52卷 / 09期

关键词：

BONE-MARROW TRANSPLANTATION; DIAGNOSIS; BLOOD;

D O I：

10.1038/bmt.2017.46

中图分类号：

Q6 [生物物理学];

学科分类号：

071011 ;

摘要：

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.

引用

页码：1249 / 1252

页数：4

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