Linked Life Data

20447711

Source:http://linkedlifedata.com/resource/pubmed/id/20447711

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2010-6-11
pubmed:abstractText
The development of hepatocellular adenomas and - more rarely - carcinoma in the liver of patients with Glycogen Storage Disease type Ia (GSDIa) is a well-known complication of the disease. The pathophysiology of adenoma and carcinoma development in these patients is, however, hitherto largely unknown and is thought to be related to the metabolic control of the patient and/or the type of mutations in the G6PC gene. We report here on a very illustrative case of adenoma and carcinoma formation in a previously undiagnosed 42 year old male GSDIa patient (enzymatically and genetically proven). He had two episodes of mild hypoglycaemia in childhood, never required formal treatment, showed normal growth, and only mild lactate increases after prolonged starvation. He was a long-distance runner for most of his adult life, without the need for more than normal carbohydrate intake before/during exertion. To gain a better view on the type of adenoma formed in this patient, molecular studies were performed. We show here that in this patient with mild GSDIa without recurrent hypoglycaemic episodes, adenoma and carcinoma formation still occurred and that malignant transformation of adenoma here is associated with CTNNB1 mutations and a typical mRNA profile of a beta-catenin activated lesion.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0168-8278
pubmed:author
pubmed:copyrightInfo
Copyright 2010 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.
pubmed:issnType
Print
pubmed:volume
53
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
213-7
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
An adult male patient with multiple adenomas and a hepatocellular carcinoma: mild glycogen storage disease type Ia.
pubmed:affiliation
Department of Hepatology, University Hospital Gasthuisberg, Leuven, Belgium. David.cassiman@uzleuven.be
pubmed:publicationType
Journal Article, Case Reports