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Five-year follow-up...
Five-year follow-up of two siblings with aspartylglucosaminuria undergoing allogeneic stem-cell transplantation from unrelated donors
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- Malm, Gunilla (författare)
- Karolinska Institutet
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- Månsson, Jan-Eric, 1946 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för klinisk neurovetenskap, Sektionen för laborativ neurovetenskap,Institute of Clinical Neurosciences, Section of Experimental Neuroscience
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- Winiarski, Jacek (författare)
- Karolinska Institutet
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- Mosskin, Mikael (författare)
- Karolinska Institutet
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- Ringdén, Olle (författare)
- Karolinska Institutet
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(creator_code:org_t)
- Ovid Technologies (Wolters Kluwer Health), 2004
- 2004
- Engelska.
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Ingår i: TRANSPLANTATION. - : Ovid Technologies (Wolters Kluwer Health). - 0041-1337. ; 78:3, s. 415-419
- Relaterad länk:
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https://gup.ub.gu.se...
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http://kipublication...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Background. Aspartylglucosaminuria is a rare, inherited lysosomal disease characterized by a slowly progressive mental retardation and coarse facial and body features. With the intent to provide the deficient enzyme aspartylglucosaminidase, allogeneic stem-cell transplantation (ASCT) has been attempted. Only a few cases of transplants have been reported. Methods. Two siblings with aspartylglucosaminuria underwent allogeneic bone marrow transplants using unrelated human leukocyte antigen-A, -B, and DR identical donors at ages 10 years 5 months and 5 years 10 months, respectively. They were followed during 5 years with biochemical, neuroradiologic, neuropsychologic, and clinical investigations. Results. During 5 years follow-up, no neuropsychologic or clinical deterioration was noted in the children. A stable expression of aspartylglucosaminidase was found during the whole follow-up period. The spinal fluid concentration of Tau-protein, a marker of neuronal and axonal degeneration and damage, peaked at approximately 12 months after bone-marrow transplantation and then declined to almost normal levels after 5 years. By magnetic resonance imaging (MRI), an improvement of myelination in the youngest sibling and an arrest of demyelination in the older one were observed. Conclusion. The importance of long-term follow-up of children after ASCT in this rare, very slowly progressive lysosomal disease must be emphasized. We report that none of the children had lost any capabilities since the transplantation; moreover, an improvement is shown in biochemical markers and MRI white-matter signals, suggesting a beneficial effect.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Kirurgi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Surgery (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Immunologi inom det medicinska området (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Immunology in the medical area (hsv//eng)
Nyckelord
- bone-marrow-transplantation
- versus-host-disease
- metachromatic leukodystrophy
- leukemia
- children
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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