Hepatocyte Transplantation for Glycogen Storage Disease Type Ib
| Autor: | Kwang-Woong Lee, Ji-Hyun Lee, Sung Wook Shin, Sung Joo Kim, Jae Won Joh, Doo-Hoon Lee, Jong-Won Kim, Hwa-Young Park, Soo-Youn Lee, Hwan Hyo Lee, Jin Wan Park, Shi-Yeon Kim, Hee-Hoon Yoon, Doo-Hee Jung, Yon Ho Choe, Suk-Koo Lee |
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| Jazyk: | angličtina |
| Rok vydání: | 2007 |
| Předmět: | |
| Zdroj: | Cell Transplantation, Vol 16 (2007) |
| Druh dokumentu: | article |
| ISSN: | 0963-6897 1555-3892 00000000 |
| DOI: | 10.3727/000000007783465019 |
| Popis: | Glycogen storage disease type I (GSD-I) is a group of autosomal recessive disorders with an incidence of 1 in 100,000. The two major subtypes are GSD-Ia, caused by a deficiency of glucose-6-phosphatase (G6Pase), and GSD-Ib, caused by a deficiency of glucose-6-phosphate transporter (G6PT). We report that a substantial improvement was achieved following several infusions of hepatocytes in a patient with GSD-Ib. Hepatocytes were isolated from the unused cadaveric whole livers of two donors. At the first transplantation, approximately 2 × 109 cells (2% of the estimated recipient's total hepatocytes) were infused. Seven days later 1 × 109 (1% of liver mass) cryopreserved hepatocytes from the same donor were infused, and an additional 3 × 109 (3% of liver mass) cells from the second donor were infused 1 month after the second transplantation. After the hepatocyte transplantation, the patient showed no hypoglycemic symptoms despite the discontinuation of cornstarch meals. Liver biopsies on posttransplantation days 20 and 250 showed a normal level of glucose-6-phosphatase activity in presolubilization assay that was very low before transplantation. This was the first and successful clinical hepatocyte transplantation in Korea. In this study, hepatocyte transplantation allowed a normal diet in a patient with GSD-Ib, with substantial improvement in their quality of life. Hepatocyte transplantation might be an alternative to liver transplantation and dietary therapy in GSD-Ib. |
| Databáze: | Directory of Open Access Journals |
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