Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report

Mucopolysaccharidosis type VII (MPS VII) is an inherited disease characterized by the cellular accumulation of undegraded GAGs due to the deficiency of the lysosomal enzyme β‐glucuronidase. We describe a case of a 2‐year‐old female affected by a moderate form of MPS VII and submitted twice to HSCT w...

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Bibliographic Details
Published in:Pediatric transplantation 2018-11, Vol.22 (7), p.e13278-n/a
Main Authors: Sisinni, Luisa, Pineda, Mercedes, Coll, Maria Josep, Gort, Laura, Turon, Eulalia, Torrent, Montserrat, Ey, Anna, Tobajas, Eva, Badell, Isabel
Format: Article
Language:English
Subjects:
Case reports
Child, Preschool
Cognition
developmental
Enzymes
Female
Genetic disorders
genetics
Graft rejection
haematopoietic stem cell transplantation
Hematopoietic Stem Cell Transplantation
Hematopoietic stem cells
Humans
Metabolic disorders
Mucopolysaccharidosis
Mucopolysaccharidosis VII - therapy
neurology
Stem cell transplantation
Transplants & implants
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Summary:Mucopolysaccharidosis type VII (MPS VII) is an inherited disease characterized by the cellular accumulation of undegraded GAGs due to the deficiency of the lysosomal enzyme β‐glucuronidase. We describe a case of a 2‐year‐old female affected by a moderate form of MPS VII and submitted twice to HSCT with the aim of stabilizing skeletal problems and preventing neurocognitive alterations. The child underwent a second transplantation due to the rejection of the graft after a reduced‐intensity conditioning in the first transplant. A myeloablative regimen allowed to achieve a stable full donor engraftment and normal enzyme levels during the 6 years of follow‐up. Clinically, we observed stabilization of skeletal deformities and normal neurocognitive development. This is one of the few reports of mucopolysaccharidosis type VII treated with allogeneic HSCT.
ISSN:1397-3142
1399-3046
DOI:10.1111/petr.13278