Labrune Philippe
Service de Pédiatrie et Consultation de Génétique, Hôpital Antoine Béclère (AP-HP), BP 405, 92141 Clamart cedex, France.
Eur J Pediatr. 2002 Oct;161 Suppl 1:S53-5. doi: 10.1007/s00431-002-1004-y. Epub 2002 Jul 19.
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.
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.
尽管在I型糖原贮积病患者的管理方面已取得显著进展，但肝脏（主要是腺瘤）和肾脏（蛋白尿、肾衰竭）并发症仍可能发生。原位肝移植报道的患者不到20例，在大多数情况下，其适应证为多发性肝腺瘤，有时合并代谢控制不佳和/或生长发育迟缓。尽管短期预后似乎良好，但已有数例报道了长期并发症。因此，在此类患者进行肝移植之前，似乎必须尝试改善代谢控制。至于肾移植，已在终末期肾衰竭患者中进行。希望改善长期代谢控制能防止肾脏病变发展为终末期肾衰竭。最后，少数患者可能需要进行肝肾联合移植。
在尝试进行长期代谢控制后，I型糖原贮积病患者进行器官（肝/肾）移植可能有益。然而，移植后仍可能发生长期并发症。
