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

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...

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Bibliographic Details
Published in:	Bone marrow transplantation (Basingstoke) Vol. 52; no. 9; pp. 1249 - 1252
Main Authors:	Isaev, A A, Deev, R V, Kuliev, A, Plaxa, I L, Stancheva, N V, Borovkova, A S, Potapov, I V, Pomerantseva, E A, Chogovadze, A G, Boyarsky, K Y, Semenenko, A E, Mikhailov, A V, Shevchenko, K G, Prikhodko, A V, Rechitsky, S, Paina, O V, Barchatov, I M, Zubarovskaya, L S, Verlinsky, O, Bozo, I Y, Afanasyev, B V
Format:	Journal Article
Language:	English
Published:	London Nature Publishing Group UK 01-09-2017 Nature Publishing Group
Subjects:	38/23 45/100 631/208/2489/1512 692/700/1720 96/63 Blood transfusion Bone marrow Bone Marrow Diseases - therapy Bone marrow transplantation Care and treatment Cell Biology Child Cord blood Diagnosis Diamonds Embryos Exocrine Pancreatic Insufficiency - therapy Female Genetic disorders Genetic screening Hematology Hematopoietic stem cell transplantation Hematopoietic Stem Cell Transplantation - methods Histocompatibility antigen HLA Histocompatibility Testing - methods Humans Internal Medicine Lipomatosis - therapy Medicine Medicine & Public Health Myelodysplastic syndrome Pregnancy Preimplantation Diagnosis - methods Public Health Siblings Special Report Stem cell transplantation Stem Cells Tissue Donors Tissue typing Transfusion Transplantation Transplantation Conditioning - methods Transplantation, Homologous - methods
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Summary:	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.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0268-3369 1476-5365
DOI:	10.1038/bmt.2017.46