Glycogen storage disease type I: indications for liver and/or kidney transplantation

Abstract.

Even though significant progress has been achieved in the management of patients with glycogen storage disease type I, hepatic (mainly adenomas) and renal (proteinuria, renal failure) complications may still develop. Orthotopic liver transplantation has been reported in less than 20 patients, and, in most cases, its indications were multiple hepatic adenomas, sometimes combined with poor metabolic control and/or growth retardation. Even though short-term outcome seems to be favourable, long-term complications have been reported in several cases. Thus it appears that improved metabolic control has to be attempted before performing liver transplantation in such patients. As for renal transplantation, it has been performed in patients with terminal renal failure. It is hoped that improving long-term metabolic control will prevent renal involvement from evolving to terminal renal failure. Finally, combined liver and kidney transplantation may be indicated in a few patients. Conclusion: organ (liver/kidney) transplantation in glycogen storage disease type I may be advantageous when long-term metabolic control has been attempted. Nevertheless, post-transplantat long-term complications may still develop.