Maya Aparicio A C, Bernal Bellido C, Tinoco González J, Garcia Ruíz S, Aguilar Romero L, Marín Gómez L M, Suárez Artacho G, Alamo Martínez J M, Serrano Díez-Canedo J, Padillo Ruíz F J, Gomez Bravo M A
General Surgery and Digestive, Hepatobiliopancreatic Surgery, Virgen del Rocio University Hospitals, Seville, Spain.
Transplant Proc. 2013;45(10):3668-9. doi: 10.1016/j.transproceed.2013.10.033.
Von Gierke's disease or glycogen storage disease type Ia (GSD-Ia) is an infrequent metabolic disease caused by an atypical accumulation of glycogen. The principal cause of this pathology is deficiency of the glucose-6-phosphatase enzyme. Herein we have reported a case of a young man with a history of Von Gierke's disease (GSD-Ia) since childhood who developed hepatocellular adenomatosis brought to light by ultrasounds and TACs. The patient began to develop early chronic renal failure, necessitating simultaneous liver and kidney transplantation. Years later continuous reviews at the nephrology and hepatobiliopancreatic surgery services show he has a good quality of life and a normal hepatorenal profile.
冯·吉尔克病或糖原贮积病Ia型（GSD-Ia）是一种由糖原异常蓄积引起的罕见代谢性疾病。这种病症的主要病因是葡萄糖-6-磷酸酶缺乏。在此，我们报告了一例自幼患有冯·吉尔克病（GSD-Ia）的青年男性病例，其肝细胞腺瘤病通过超声和计算机断层扫描得以发现。该患者开始出现早期慢性肾衰竭，需要同时进行肝肾移植。数年后，肾病科和肝胆胰外科的持续复查显示他生活质量良好，肝肾指标正常。
