Fifteen Years of Follow-up of a Liver Transplant Recipient With Glycogen Storage Disease Type Ia (Von Gierke Disease)

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• 作者：A.C. Maya Aparicio ; C. Bernal Bellido ; J. Tinoco Gonz谩lez ; S. Garcia Ru铆z ; L. Aguilar Romero ; L.M. Mar铆n G贸mez ; G. Su谩rez Artacho ; J.M. 脕lamo Mart铆nez ; J. Serrano D铆ez-Canedo ; F.J. Padillo Ru铆z ; M.A. Gomez Bravo
• 刊名：Transplantation Proceedings
• 出版年：December, 2013
• 年：2013
• 卷：45
• 期：10
• 页码：3668-3669
• 全文大小：485 K

文摘

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.