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World J Diabetes. Dec 15, 2014; 5(6): 882-888
Published online Dec 15, 2014. doi: 10.4239/wjd.v5.i6.882
Diagnosis of hepatic glycogenosis in poorly controlled type 1 diabetes mellitus
Stefania Giordano, Antonio Martocchia, Lavinia Toussan, Manuela Stefanelli, Francesca Pastore, Antonio Devito, Marcello G Risicato, Luigi Ruco, Paolo Falaschi
Stefania Giordano, Antonio Martocchia, Lavinia Toussan, Manuela Stefanelli, Francesca Pastore, Antonio Devito, Marcello G Risicato, Luigi Ruco, Paolo Falaschi, Geriatric Unit, “Sapienza” University of Rome, Faculty of Medicine and Psychology, S. Andrea Hospital, 00189 Rome, Italy
Author contributions: All authors contributed to this manuscript.
Correspondence to: Stefania Giordano, MD, Geriatric Unit, “Sapienza” University of Rome, Faculty of Medicine and Psychology, S. Andrea Hospital, Via di Grottarossa 1035/39, 00189 Rome, Italy. s.giordano87@yahoo.it
Telephone: +39-06-33775467 Fax: +39-06-33775401
Received: August 12, 2014
Revised: October 2, 2014
Accepted: October 23, 2014
Published online: December 15, 2014
Processing time: 122 Days and 21.5 Hours
Abstract

Hepatic glycogenosis (HG) in type 1 diabetes is a underrecognized complication. Mauriac firstly described the syndrome characterized by hepatomegaly with altered liver enzymes, growth impairment, delay puberty and Cushingoid features, during childhood. HG in adulthood is characterized by the liver disorder (with circulating aminotransferase increase) in the presence of poor glycemic control (elevation of glycated hemoglobin, HbA1c levels). The advances in the comprehension of the metabolic pathways driving to the hepatic glycogen deposition point out the role of glucose transporters and insulin mediated activations of glucokinase and glycogen synthase, with inhibition of glucose-6-phosphatase. The differential diagnosis of HG consists in the exclusion of causes of liver damage (infectious, metabolic, obstructive and autoimmune disease). The imaging study (ultrasonography and/or radiological examinations) gives information about the liver alterations (hepatomegaly), but the diagnosis needs to be confirmed by the liver biopsy. The main treatment of HG is the amelioration of glycemic control that is usually accompanied by the reversal of the liver disorder. In selected cases, more aggressive treatment options (transplantation) have been successfully reported.

Keywords: Hepatic glycogenosis; Type 1 diabetes mellitus; Hepatomegaly; Glycogen; Glucose transporters; Insulin; Glucokinase; Glycogen synthase; Glucose-6-phosphatase

Core tip: This review contain an extensive revision of the case reports described in literature; in particular glycemic control (elevation of glycated hemoglobin, HbA1c levels, presence of ketoacidosis and insulin dosage), imaging studies and bioptic findings are summarized and discussed. The pathophysiological mechanisms behind the accumulation of glycogen in hepatocytes in patient with poorly controlled type 1 diabetes mellitus are described in detail.