Faculty Collaboration Database

Hematopoietic stem cell transplantation for infantile osteopetrosis. Bone Marrow Transplant 1998 Nov;22(10):941-6

Date

12/16/1998

Pubmed ID

9849690

DOI

10.1038/sj.bmt.1701474

Scopus ID

2-s2.0-0031722668 (requires institutional sign-in at Scopus site)   34 Citations

Abstract

Infantile osteopetrosis is a lethal disorder resulting from a severe defect in the ability of osteoclasts to resorb bone. The only therapy shown to be capable of providing lasting benefit is allogeneic hematopoietic stem cell transplantation (HCT). We report the outcome of 10 patients with infantile malignant osteopetrosis treated with HCT from an HLA A, B, DRB1 matched (n=6) or A or B locus mismatched (n=4) family member or unrelated donor at the University of Minnesota between 1978 and 1997. Eight of 10 patients achieved primary engraftment; secondary graft failure was seen in two patients. Five of 10 patients survive; three with full or partial donor chimerism and two with autologous hematological recovery. Transient or partial donor chimerism can be sufficient to correct the hematological manifestations of osteopetrosis. We recommend early referral for consideration of HCT with a related or unrelated donor as neurosensory manifestations of osteopetrosis are generally not reversible. Donor engraftment may be easier to achieve early in the course of the disease.

Author List

Eapen M, Davies SM, Ramsay NK, Orchard PJ

Author

Mary Eapen MBBS, DCh, MRCPI, MS Professor in the Medicine department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Child, Preschool
Female
Graft vs Host Disease
Hematopoietic Stem Cell Transplantation
Humans
Infant
Male
Osteopetrosis
Survival Rate
Transplantation Chimera
Treatment Outcome