Korean J Med.  2001 Aug;61(2):195-200.

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

• Kim DK
• Kim HS
• Yoo SY
• Jeong CK
• Park JS
• Ha MJ
• Kim HJ
• Kim HC

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.

Keyword

Gaucher disease; Bone Marrow Transplatation; FACS Analysis

MeSH Terms

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
Glucosylceramidase