Long-term follow-up of a patient transplanted for Hunter's disease type IIB: a case report and literature review.
Unlike most other storage diseases and despite clinical experience, the indications for bone marrow transplantation in Hunter's disease remain controversial. The case of a 14-year-old male with mucopolysaccharidosis type IIB is presented, who received an allograft from his HLA-identical sibling. The donor had been off therapy for acute lymphoblastic leukemia for 3 years. The patient experienced minimal difficulties with his transplant and was fully engrafted by day 42, with no signs of acute or chronic graft-versus-host disease. Now, more than 3 years after BMT, the patient has experienced significant subjective and objective improvement in his disease. The iduronate-2-sulfatase levels in the serum are now approximately 10% of normal control. Urinary glycosaminoglycans were negative. The posttransplant marrow was evaluated for donor-recipient source using VNTR analysis with the polymerase chain reaction (PCR). This showed a PCR-detectable subpopulation of residual patient marrow cells remaining, suggesting a state of stable mixed chimerism. The patient continues to show signs of amelioration of his disease. These results may be of value in determining the proper therapy for a patient with mild Hunter's disease, and may also be pertinent to the future application of recombinant enzyme therapy or gene therapy.
Jean Marie Colbert Bone Marrow Transplant Unit, University of Connecticut Health Center, Department of Pediatrics, Farmington 06030.
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Bergstrom
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Quinn
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Greenstein
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Ascensao
D000293:Adolescent; D016026:Bone Marrow Transplantation; D005500:Follow-Up Studies; D006086:Graft vs Host Disease / Q000517:prevention & control; D006801:Humans; D008297:Male; D016532:Mucopolysaccharidosis II / Q000628:therapy*; D014184:Transplantation, Homologous