A case of allogeneic bone marrow transplantation in Gaucher's disease type III and recovery of enzyme activity documented by Fluorescence-Activated Cell Sorter (FACS) analysis.
- Author:
Deog Ki KIM
1
;
Hyun Soo KIM
;
Sang Yong YOO
;
Cheol Kweon JEONG
;
Joon Seong PARK
;
Mahn Joon HA
;
Hyon Ju KIM
;
Hugh Chul KIM
Author Information
1. Department of Hematology-Oncology, Institute for Medical sciences, Ajou University School of Medicine, Suwon, Korea. khsmd@unitel.co.kr
- Publication Type:Case Report
- Keywords:
Gaucher disease;
Bone Marrow Transplatation;
FACS Analysis
- MeSH:
Adolescent;
Bone Marrow Examination;
Bone Marrow Transplantation*;
Bone Marrow*;
Enzyme Replacement Therapy;
Female;
Gaucher Disease*;
Genetic Therapy;
Glucosylceramidase;
Humans;
Lysosomal Storage Diseases;
Macrophages;
Microsatellite Repeats;
Monocytes;
Mononuclear Phagocyte System;
Phenotype;
Tissue Donors
- From:Korean Journal of Medicine
2001;61(2):195-200
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Gaucher's disease (GD) is the most common inherited lysosomal storage disease, manifested by generalized accumulation of glucocerebroside in macrophages of the reticuloendothelial system due to a deficient lysosomal beta-glucocerebrosidase (GC). It is inherited by an autosomal recessive pattern in which three clinical phenotypes have been described based on the presence and severity of neurologic involvement. GD is treated possible by GC enzyme replacement therapy, allogeneic bone marrow transplantation (BMT), and gene therapy. We here report the exprience of successful allogeneic BMT in a 16-year-old female patient with GD type III which was demostrated markedly increased Gaucher cells in bone marrow and absence of GC activity in peripheral blood monocytes by FACS using 5'- pentafluorobenzoylaminofluorescein-di-beta-D-glucoside (PFBFDGlu) as substrate. Donor marrow engraftment was confirmed by chromosome analysis using microsatellite and by bone marrow examination. Assay of GC activity using FACS revealed normal level of enzyme activity. She remains alive and well after 12 months of BMT.
