Summary:A 12-year-old girl with Sly disease (mucopolysaccharidosis VII; ␤-glucuronidase deficiency), who is homozygous for the A619V mutation, had a successful allogeneic BMT, donored by an HLA-identical unrelated female to replace the deficient enzyme. Within 5 months after BMT, the enzyme activity of the recipient's lymphocytes increased to normal range. No signs of acute or chronic GVHD were observed. For the successive 31 months post-BMT, ␤-glucuronidase activity in her lymphocytes was maintained at almost normal levels and excretion of glycosaminoglycans in the urine was greatly diminished. Ultrastructural findings demonstrated no abnormal vacuoles and inclusion bodies in the cytoplasm of her rectal mucosal cells. Coincident with the restoration of the enzyme activity, clinical improvement was dramatic. Especially notable were improvements in motor function. The patient was able to walk alone for a long time without aid, and she even became able to ride a bicycle and take a bath. In addition, recurrent infections of the upper respiratory tract and the middle ears decreased in frequency and severity, and dyspnea on exertion, severe snoring and vertigo have substantially improved. Thus, allogeneic BMT in this patient produced a better quality of life and provided a more promising outlook.

Summary:We analyzed the incidence, complications, and risk factors for late-onset hemorrhagic cystitis (HC) in 256 children undergoing hematopoietic stem cell transplantation (HSCT). Twenty-six recipients (10.2%) developed late-onset HC between 3 and 270 days (median, 33 days) after HSCT. In most patients, the severity of HC was mild to moderate, and spontaneous resolution occurred. Three children developed bladder tamponade, and one required suprapubic cystotomy. Four children died in the early post-transplant period without resolution of HC, but HC was not the direct cause of death in any patient. Twenty-two patients recovered within 6-86 days (median, 16 days) of onset. Three predisposing factors were identified for development of late-onset HC by multivariate analysis: allogeneic HSCT, older age (у7 years), and busulphan for pretransplant conditioning were significantly associated with late-onset HC (P ‫؍‬ 0.022, P ‫؍‬ 0.044 and P ‫؍‬ 0.036, respectively). Excretion of adenovirus type 11 was demonstrated in six of 22 patients at the onset of cystitis. We suspect that reactivation of virus may be a major pathogenic factor in lateonset HC, but several clinical factors are also associated.

Summary:Intravenous ribavirin was given to nine patients who had developed severe adenovirus-induced hemorrhagic cystitis (AD-HC) which was resistant to conventional therapy or where there was involvement of other organs after allogeneic BMT. Three patients recovered completely from AD-HC, two of whom had been resistant to vidarabine. All three had received sibling BMTs (2 HLA matched, 1 HLA mismatched). Five patients who received BMTs from related (2 HLA mismatched) or unrelated (1 HLA matched, 2 HLA mismatched) showed an improvement in symptoms but had recurrent AD-HC after discontinuation of ribavirin. Improvement in clinical symptoms and termination of virus excretion were well correlated. The last patient who received a mismatched unrelated BMT died during ribavirin therapy. Ribavirin was notably more effective among patients receiving BMTs from siblings in contrast to patients receiving BMTs from alternative donors (Ͻ0.05). One patient experienced severe pancytopenia during the second treatment with ribavirin after HC recurrence and recovered after ceasing ribavirin. Thus, ribavirin seems to be very effective for severe AD-HC for some recipients who receive transplants from a genetically close donor. Bone Marrow Transplantation (2000) 25, 545-548.

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