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Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis
R. Šáhó, R. Formánková, JB. Eisengart, AM. Lund, C. Videbaek, BB. Gürbüz, NY. Özbek, F. Al Jasmi, P. Ješina, F. Feillet, C. Pochon, AS. Guémann, M. AlSayed, S. Laktina, SK. Uçar, S. Aksoylar, TC. Lund, PJ. Orchard, FT. Eminoğlu, T. İleri, ÇS....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, multicentrická studie
Grantová podpora
64165
Ministerstvo Zdravotnictví Ceské Republiky RVO
Ministerstvo Školství, Mládeže a Tělovýchovy COOPERATIO
PubMed
40551549
DOI
10.1002/jimd.70047
Knihovny.cz E-zdroje
- MeSH
- alfa-mannosidóza * terapie diagnóza komplikace MeSH
- dítě MeSH
- enzymová substituční terapie MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- následné studie MeSH
- nemoc štěpu proti hostiteli etiologie MeSH
- předškolní dítě MeSH
- retrospektivní studie MeSH
- transplantace hematopoetických kmenových buněk * škodlivé účinky metody MeSH
- výsledek terapie MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
The outcomes of alpha-mannosidosis after hematopoietic stem cell transplantation (HSCT) are incompletely described. This retrospective multi-center study evaluated the outcomes of patients who underwent HSCT for their alpha-mannosidosis after 2010. Twenty-one children (11 females) with enzymatically and/or genetically confirmed alpha-mannosidosis, diagnosed at a mean age of 14 months (0-60 months), were included. The median age at HSCT was 3.9 years (10 months to 13.3 years) with a median follow-up of 2.3 years (0.3-14.1 years). Seventy-four percent (14/19) of patients received an unrelated graft while the rest had a matched sibling donor. Primary engraftment was reached in 17 of 21 patients; four patients required a second HSCT with successful subsequent engraftment. Nine patients had severe post-HSCT infections, five patients developed acute graft-versus-host disease (GvHD) (> = grade II), and one patient had chronic GvHD. No patient died during follow-up. Seven out of ten patients received enzyme replacement therapy both pre- and post-HSCT. Among children with clinical symptoms, improvement was documented in hepatomegaly (40% of patients before HSCT, down to 10% after), recurrent infections (62%/30%), and hearing disorder (85%/65%). In 13 patients with developmental data, outcomes after HSCT suggested at least mild delays persisted post-HSCT in the majority (85%), with some trends of higher functioning with earlier treatment. Findings suggest HSCT has shown notable improvements in safety and is associated with clinical benefit in alpha-mannosidosis. Neurodevelopmental findings require longer-term study to account for phenotypic diversity.
Ankara Bilkent City Hospital Department of Pediatric Metabolism Ankara Türkiye
Ankara University Faculty of Medicine Department of Pediatric Metabolism Ankara Türkiye
Ankara University Rare Diseases Application and Research Center Ankara Türkiye
Department of Biology and Microbiology Rīga Stradiņš University Riga Latvia
Department of Paediatrics University Medical Center Ulm Germany
Department of Pediatric Metabolism Ege University Faculty of Medicine İzmir Türkiye
Citace poskytuje Crossref.org
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- $a The outcomes of alpha-mannosidosis after hematopoietic stem cell transplantation (HSCT) are incompletely described. This retrospective multi-center study evaluated the outcomes of patients who underwent HSCT for their alpha-mannosidosis after 2010. Twenty-one children (11 females) with enzymatically and/or genetically confirmed alpha-mannosidosis, diagnosed at a mean age of 14 months (0-60 months), were included. The median age at HSCT was 3.9 years (10 months to 13.3 years) with a median follow-up of 2.3 years (0.3-14.1 years). Seventy-four percent (14/19) of patients received an unrelated graft while the rest had a matched sibling donor. Primary engraftment was reached in 17 of 21 patients; four patients required a second HSCT with successful subsequent engraftment. Nine patients had severe post-HSCT infections, five patients developed acute graft-versus-host disease (GvHD) (> = grade II), and one patient had chronic GvHD. No patient died during follow-up. Seven out of ten patients received enzyme replacement therapy both pre- and post-HSCT. Among children with clinical symptoms, improvement was documented in hepatomegaly (40% of patients before HSCT, down to 10% after), recurrent infections (62%/30%), and hearing disorder (85%/65%). In 13 patients with developmental data, outcomes after HSCT suggested at least mild delays persisted post-HSCT in the majority (85%), with some trends of higher functioning with earlier treatment. Findings suggest HSCT has shown notable improvements in safety and is associated with clinical benefit in alpha-mannosidosis. Neurodevelopmental findings require longer-term study to account for phenotypic diversity.
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