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Bone Marrow Transplant. 2017 Sep;52(9):1249-1252. doi: 10.1038/bmt.2017.46. Epub 2017 Mar 27.

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

Author information

1
PJSC Human Stem Cells Institute, Moscow, Russia.
2
Department of Pathological Anatomy with Forensic Medicine Course, I.P. Pavlov Ryazan State Medical University, Ryazan, Russia.
3
Reproductive Genetics Institute, Chicago, IL, USA.
4
First I.P. Pavlov St Petersburg State Medical University, R. Gorbacheva Memorial Research Institute for Pediatric Oncology, Hematology and Transplantation (RIPOHT), Saint-Petersburg, Russia.
5
IVF-clinic 'Genesis', Saint-Petersburg, Russia.
6
Maternity Home No.17, Saint-Petersburg, Russia.

Abstract

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.

PMID:
28346418
PMCID:
PMC5589973
DOI:
10.1038/bmt.2017.46
[Indexed for MEDLINE]
Free PMC Article

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