Outcomes after hematopoietic stem cell transplantation for children with I-cell disease. Biol Blood Marrow Transplant 2014 Nov;20(11):1847-51
Date
07/13/2014Pubmed ID
25016194Pubmed Central ID
PMC4194244DOI
10.1016/j.bbmt.2014.06.019Scopus ID
2-s2.0-84908075401 (requires institutional sign-in at Scopus site) 34 CitationsAbstract
Mucolipidosis type II (MLII), or I-cell disease, is a rare but severe disorder affecting localization of enzymes to the lysosome, generally resulting in death before the 10th birthday. Although hematopoietic stem cell transplantation (HSCT) has been used to successfully treat some lysosomal storage diseases, only 2 cases have been reported on the use of HSCT to treat MLII. For the first time, we describe the combined international experience in the use of HSCT for MLII in 22 patients. Although 95% of the patients engrafted, overall survival was low, with only 6 patients (27%) alive at last follow-up. The most common cause of death post-transplant was cardiovascular complications, most likely due to disease progression. Survivors were globally delayed in development and often required complex medical support, such as gastrostomy tubes for nutrition and tracheostomy with mechanical ventilation. Although HSCT has demonstrated efficacy in treating some lysosomal storage disorders, the neurologic outcome and survival for patents with MLII were poor. Therefore, new medical and cellular therapies should be sought for these patients.
Author List
Lund TC, Cathey SS, Miller WP, Eapen M, Andreansky M, Dvorak CC, Davis JH, Dalal JD, Devine SM, Eames GM, Ferguson WS, Giller RH, He W, Kurtzberg J, Krance R, Katsanis E, Lewis VA, Sahdev I, Orchard PJAuthor
Mary Eapen MBBS, DCh, MRCPI, MS Professor in the Medicine department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Child, PreschoolData Collection
Hematopoietic Stem Cell Transplantation
Humans
Infant
Mucolipidoses
Surveys and Questionnaires
Transplantation Conditioning
Treatment Outcome
