Ji Hao-Feng, Wang Wei-Lin, Shen Yan, Zhang Min, Liang Ting-Bo, Wu Jian, Xu Xiao, Yan Sheng, Zheng Shu-Sen
Department of Hepatobiliary Pancreatic Surgery, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China.
Hepatobiliary Pancreat Dis Int. 2009 Feb;8(1):106-8.
Glycogen storage disease (GSD) is an inherited metabolic disorder in which the concentration and/or structure of glycogen in tissues is abnormal. Essentially, abnormalities in all known enzymes involved in the synthesis or degradation of glycogen and glucose have been found to cause some type of GSD. Liver and muscle have abundant quantities of glycogen and are the most common and seriously affected tissues. This study was to assess reduced-size liver transplantation for the treatment of GSD.
The clinical data from one case of GSD type I with hepatic adenoma was retrospectively analyzed. The clinical manifestations were hepatomegaly, delayed puberty, growth retardation, sexual immaturity, hypoglycemia, and lactic acidosis, which made the young female patient eligible for reduced-size liver transplantation.
The patient recovered uneventfully with satisfactory outcome, including 12 cm growth in height and 5 kg increase in weight during 16 months after successful reduced-size liver transplantation. She has been living a normal life for 4 years so far.
Reduced-size liver transplantation is an effective treatment for GSD with hepatomegaly and hepatic adenoma. Delayed puberty, growth retardation, hypoglycemia and lactic acidosis can be cured by surgery.
糖原贮积病（GSD）是一种遗传性代谢紊乱疾病，其中组织中糖原的浓度和/或结构异常。从本质上讲，已发现参与糖原和葡萄糖合成或降解的所有已知酶的异常都会导致某种类型的GSD。肝脏和肌肉含有大量糖原，是最常见且受影响最严重的组织。本研究旨在评估减体积肝移植治疗GSD的效果。
回顾性分析1例I型GSD合并肝腺瘤患者的临床资料。临床表现为肝肿大、青春期延迟、生长发育迟缓、性发育不成熟、低血糖和乳酸酸中毒，这些使得这位年轻女性患者符合减体积肝移植的条件。
患者术后恢复顺利，效果满意，在成功进行减体积肝移植后的16个月内身高增长了12厘米，体重增加了5千克。到目前为止，她已经正常生活了4年。
减体积肝移植是治疗GSD合并肝肿大和肝腺瘤的有效方法。手术可治愈青春期延迟、生长发育迟缓、低血糖和乳酸酸中毒。
