Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up
Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans, affecting multiple organs and systems. Enzyme replacement therapy does not cross...
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doaj-d106bbd7c24241ee85e1b7be302c0ab42020-11-25T00:53:17ZengElsevierMolecular Genetics and Metabolism Reports2214-42692017-09-0112C626810.1016/j.ymgmr.2017.05.010Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-upAnneliese L. Barth0Tatiana S.P.C. de Magalhães1Ana Beatriz R. Reis2Maria Lucia de Oliveira3Fernanda B. Scalco4Nicolette C. Cavalcanti5Daniel S. e Silva6Danielle A. Torres7Alessandra A.P. Costa8Carmem Bonfim9Roberto Giugliani10Juan C. Llerena, Jr11Dafne D.G. Horovitz12Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira - Fiocruz, Rio de Janeiro, BrazilInstituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira - Fiocruz, Rio de Janeiro, BrazilInstituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira - Fiocruz, Rio de Janeiro, BrazilLaboratório de Erros Inatos do Metabolismo, Federal University of Rio de Janeiro, Rio de Janeiro, BrazilLaboratório de Erros Inatos do Metabolismo, Federal University of Rio de Janeiro, Rio de Janeiro, BrazilInstituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira - Fiocruz, Rio de Janeiro, BrazilInstituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira - Fiocruz, Rio de Janeiro, BrazilInstituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira - Fiocruz, Rio de Janeiro, BrazilInstituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira - Fiocruz, Rio de Janeiro, BrazilBone Marrow Transplantation Unit, Federal University of Paraná, Curitiba, BrazilMedical Genetics Service, Hospital de Clinicas de Alegre, Porto Alegre, BrazilInstituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira - Fiocruz, Rio de Janeiro, BrazilInstituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira - Fiocruz, Rio de Janeiro, BrazilMucopolysaccharidosis type II (MPS II - Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans, affecting multiple organs and systems. Enzyme replacement therapy does not cross the blood brain barrier, limiting results in neurological forms of the disease. Another option of treatment for severe MPS, hematopoietic stem cell transplantation (HSCT) has become the treatment of choice for the severe form of MPS type I, since it can preserve neurocognition when performed early in the course of the disease. To date, only few studies have examined the long-term outcomes of HSCT in patients with MPS II. We describe the seven-year follow-up of a prenatally diagnosed MPS II boy with positive family history of severe MPS form, submitted to HSCT with umbilical cord blood cells at 70 days of age. Engraftment after 30 days revealed mixed chimerism with 79% donor cells; after 7 years engraftment remains at 80%. I2S activity 30 days post-transplant was low in plasma and normal in leukocytes and the same pattern is observed to date. At age 7 years growth charts are normal and he is very healthy, although mild signs of dysostosis multiplex are present, as well as hearing loss. The neuropsychological evaluation (Wechsler Intelligence Scale for Children - Fourth Edition - WISC-IV), disclosed an IQ of 47. Despite this low measured IQ, the patient continues to show improvements in cognitive, language and motor skills, being quite functional. We believe that HSCT is a therapeutic option for MPS II patients with the severe phenotype, as it could preserve neurocognition or even halt neurodegeneration, provided strict selection criteria are followed.http://www.sciencedirect.com/science/article/pii/S2214426917300344MucopolysaccharidosisHematopoietic stem cell transplantationNeurocognition |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Anneliese L. Barth Tatiana S.P.C. de Magalhães Ana Beatriz R. Reis Maria Lucia de Oliveira Fernanda B. Scalco Nicolette C. Cavalcanti Daniel S. e Silva Danielle A. Torres Alessandra A.P. Costa Carmem Bonfim Roberto Giugliani Juan C. Llerena, Jr Dafne D.G. Horovitz |
spellingShingle |
Anneliese L. Barth Tatiana S.P.C. de Magalhães Ana Beatriz R. Reis Maria Lucia de Oliveira Fernanda B. Scalco Nicolette C. Cavalcanti Daniel S. e Silva Danielle A. Torres Alessandra A.P. Costa Carmem Bonfim Roberto Giugliani Juan C. Llerena, Jr Dafne D.G. Horovitz Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up Molecular Genetics and Metabolism Reports Mucopolysaccharidosis Hematopoietic stem cell transplantation Neurocognition |
author_facet |
Anneliese L. Barth Tatiana S.P.C. de Magalhães Ana Beatriz R. Reis Maria Lucia de Oliveira Fernanda B. Scalco Nicolette C. Cavalcanti Daniel S. e Silva Danielle A. Torres Alessandra A.P. Costa Carmem Bonfim Roberto Giugliani Juan C. Llerena, Jr Dafne D.G. Horovitz |
author_sort |
Anneliese L. Barth |
title |
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up |
title_short |
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up |
title_full |
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up |
title_fullStr |
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up |
title_full_unstemmed |
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up |
title_sort |
early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis ii: a 7 years follow-up |
publisher |
Elsevier |
series |
Molecular Genetics and Metabolism Reports |
issn |
2214-4269 |
publishDate |
2017-09-01 |
description |
Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans, affecting multiple organs and systems. Enzyme replacement therapy does not cross the blood brain barrier, limiting results in neurological forms of the disease. Another option of treatment for severe MPS, hematopoietic stem cell transplantation (HSCT) has become the treatment of choice for the severe form of MPS type I, since it can preserve neurocognition when performed early in the course of the disease. To date, only few studies have examined the long-term outcomes of HSCT in patients with MPS II. We describe the seven-year follow-up of a prenatally diagnosed MPS II boy with positive family history of severe MPS form, submitted to HSCT with umbilical cord blood cells at 70 days of age. Engraftment after 30 days revealed mixed chimerism with 79% donor cells; after 7 years engraftment remains at 80%. I2S activity 30 days post-transplant was low in plasma and normal in leukocytes and the same pattern is observed to date. At age 7 years growth charts are normal and he is very healthy, although mild signs of dysostosis multiplex are present, as well as hearing loss. The neuropsychological evaluation (Wechsler Intelligence Scale for Children - Fourth Edition - WISC-IV), disclosed an IQ of 47. Despite this low measured IQ, the patient continues to show improvements in cognitive, language and motor skills, being quite functional. We believe that HSCT is a therapeutic option for MPS II patients with the severe phenotype, as it could preserve neurocognition or even halt neurodegeneration, provided strict selection criteria are followed. |
topic |
Mucopolysaccharidosis Hematopoietic stem cell transplantation Neurocognition |
url |
http://www.sciencedirect.com/science/article/pii/S2214426917300344 |
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