Fifteen years of follow-up of a liver transplant recipient with glycogen storage disease type Ia (Von Gierke disease).

Abstract

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.

• Authors: A C Maya Aparicio, C Bernal Bellido, J Tinoco González, S Garcia Ruíz, L Aguilar Romero, L M Marín Gómez, G Suárez Artacho, J M Alamo Martínez, J Serrano Díez-Canedo, F J Padillo Ruíz, M A Gomez Bravo
• Journal: Transplantation proceedings (Transplant Proc) Vol. 45 Issue 10 Pg. 3668-9 ( 2013) ISSN: 1873-2623 [Electronic] United States
• PMID: 24314991 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2013 Elsevier Inc. All rights reserved.

Topics

• Adenoma, Liver Cell (diagnosis, etiology, surgery)
• Adult
• Disease Progression
• Glycogen Storage Disease Type I (complications, diagnosis, surgery)
• Humans
• Kidney Failure, Chronic (diagnosis, etiology, surgery)
• Kidney Transplantation
• Liver Neoplasms (diagnosis, etiology, surgery)
• Liver Transplantation
• Male
• Quality of Life
• Time Factors
• Treatment Outcome