Successful Treatment of Gaucher Disease With Matched Sibling Hematopoietic Stem Cell Transplantation: A Case Report and Literature Review. Issue 8 (3rd November 2021)

• Record Type: Journal Article
• Authors: Chavananon, Shevachut; Sripornsawan, Pornpun; Songthawee, Natsaruth; Chotsampancharoen, Thirachit
• Is Part Of: Journal of pediatric hematology/oncology. Volume 43:Issue 8(2021)
• Page Start: e1153
• Page End: e1155
• Publication Date: 2021-11-03
• Subjects: Gaucher disease -- hematopoietic stem cell transplantation -- enzyme replacement therapy; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; 618.9215
• DOI: 10.1097/MPH.0000000000002129
• Languages: English
• ISSNs: 1077-4114

Abstract

Background: Gaucher disease (GD) is the most common lysosomal storage disease and requires long-term enzyme replacement therapy (ERT), which is costly and inconvenient for resource-limited countries such as Thailand. The authors present the case of a 1-year-old boy who was diagnosed with GD type 1 with a homozygous mutation at c.1448 T>C (L444P). He was treated with ERT and matched sibling hematopoietic stem cell transplantation (HSCT) was performed 6 months after the ERT was initiated. At a 3-year follow-up after the HSCT, he had full engraftment and the Lyso-GL1 levels were also at an acceptable level, which indicated disease remission. In conclusion, the authors suggest HSCT for long-term remission of GD in children.