III型糖原贮积病——肝细胞癌是一种长期并发症吗？
Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?
作者信息
Demo Erin, Frush Donald, Gottfried Marcia, Koepke John, Boney Anne, Bali Deeksha, Chen Y T, Kishnani Priya S
机构信息
Department of Pediatrics, Duke University Medical Center, Box 3528, Durham, NC 27710, USA.
出版信息
J Hepatol. 2007 Mar;46(3):492-8. doi: 10.1016/j.jhep.2006.09.022. Epub 2006 Nov 9.
BACKGROUND/AIMS: Glycogen storage disease III (GSD III) is caused by a deficiency of glycogen-debranching enzyme which causes an incomplete glycogenolysis resulting in glycogen accumulation with abnormal structure (short outer chains resembling limit dextrin) in liver and muscle. Hepatic involvement is considered mild, self-limiting and improves with age. With increased survival, a few cases of liver cirrhosis and hepatocellular carcinoma (HCC) have been reported.
METHODS
A systematic review of 45 cases of GSD III at our center (20 months to 67 years of age) was reviewed for HCC, 2 patients were identified. A literature review of HCC in GSD III was performed and findings compared to our patients.
CONCLUSIONS
GSD III patients are at risk for developing HCC. Cirrhosis was present in all cases and appears to be responsible for HCC transformation There are no reliable biomarkers to monitor for HCC in GSD III. Systematic evaluation of liver disease needs be continued in all patients, despite lack of symptoms. Development of guidelines to allow for systematic review and microarray studies are needed to better delineate the etiology of the hepatocellular carcinoma in patients with GSD III.
背景/目的：糖原贮积病III型（GSD III）由糖原脱支酶缺乏引起，导致糖原分解不完全，致使肝脏和肌肉中出现结构异常的糖原蓄积（短外链类似极限糊精）。肝脏受累被认为是轻度的、自限性的，且会随着年龄增长而改善。随着生存率的提高，已有少数肝硬化和肝细胞癌（HCC）病例的报道。
方法
对本中心45例GSD III患者（年龄20个月至67岁）进行了关于HCC的系统回顾，确定了2例患者。对GSD III中HCC的文献进行了回顾，并将结果与我们的患者进行了比较。
结论
GSD III患者有发生HCC的风险。所有病例均存在肝硬化，似乎是导致HCC转化的原因。在GSD III中，没有可靠的生物标志物来监测HCC。尽管缺乏症状，但仍需对所有患者持续进行肝脏疾病的系统评估。需要制定指南以进行系统回顾和微阵列研究，以更好地阐明GSD III患者肝细胞癌的病因。
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