Long-term effects of bone marrow transplantation for inborn errors of metabolism: A study of four patients with lysosomal storage diseases |
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Authors: | MASUE IMAIZUMI MD KAZUO GUSHI IKUO KUROBANE SHIGEO INOUE JUN SUZUKI YOSHITSUGU KOIZUMI HOSHIROU SUZUKI ATSUSHI SATO YOU-ICHI GOTOH KAZUHIRO HAGINOYA MASAHIRO KIKUCHI JUN-ICHIROU AIKAWA KUNIAKI NARISAWA AKIRA OHUNUMA KIYOSHI OHMURA HARUO SHINTANI AKEMI TANAKA KEIYA TADA |
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Affiliation: | 1. Department of Pediatrics, Tohoku University School of Medicine;2. Department of Biochemical Genetics, Tohoku University School of Medicine;3. Takutoh Rehabilitation Center, Sendai;4. National Nishitaga Hospital, Sendai;5. Department of Pediatrics, Osaka City University School of Medicine, Osaka, Japan |
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Abstract: | Long-term effects of bone marrow transplantation (BMT) were evaluated in patients with I-cell disease, metachromatic leukodystrophy (MLD), Maroteaux-Lamy syndrome or Hunter syndrome (mild form). Donors were human leukocyte antigen (HLA)-matched siblings, and the follow-up periods were 24–71 months after BMT. The enzyme activities were increased in leukocytes, plasma or liver tissues compared with pre-BMT levels. A patient with I-cell disease acquired development of 4–8 month old infants and showed no further progression in cardiac dysfunctions. A patient with MLD showed a decelerated disease progression and an improved peripheral neuropathy, but progressive brain atrophy was not prevented. Patients with Maroteaux-Lamy syndrome or Hunter syndrome showed improvements in hepatomegaly, joint contractures, short stature and tight skin, and this greatly increased their quality of life. These results indicated that the long-term therapeutic effects achieved by BMT were subject to multiple factors including biochemical improvements, a reversibility of affected tissues, or advanced states of disease and central nervous system impairments in inborn errors of metabolism. |
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Keywords: | Key words bone marrow transplantation CNS impairments inborn errors of metabolism long-term therapeutic effects lysosomal storage disease |
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