Glucogenosis tipo III asociada a carcinoma hepatocelular / Type III glycogen storage disease associated with hepatocellular carcinoma
Gastroenterol. hepatol. (Ed. impr.)
; 28(10): 622-625, dic. 2005. ilus, tab
Article
in Es
| IBECS
| ID: ibc-041746
Responsible library:
ES1.1
Localization: ES1.1 - BNCS
RESUMEN
La glucogenosis hepática tipo III es una enfermedad hereditaria que se transmite de forma autosómica recesiva. Se caracteriza por la acumulación de glucógeno anormal en el hígado y, en el 80% de los pacientes, en el músculo. En el hígado pueden observarse fibrosis y, a veces, cirrosis hepática. Hasta el año 2000 se habían publicado 9 casos de cirrosis, 3 con hepatocarcinoma asociado. Se presenta el caso de una mujer de 31 años, diagnosticada en la infancia de glucogenosis tipo III, que a los 30 años de evolución desarrolló un carcinoma hepatocelular con trombosis portal sobre una cirrosis avanzada. Es el primero en la bibliografía española de glucogenosis tipo III asociada a carcinoma hepatocelular
ABSTRACT
Type III glycogen storage disease is a hereditary disorder with autosomal recessive transmission. It is characterized by accumulation of abnormal glycogen in the liver and, in 80% of patients, in muscle. The liver can also show fibrosis and sometimes cirrhosis. Until 2000, 9 cases of cirrhosis had been published, 3 of which showed associated hepatocarcinoma. We present the case of a 31-year-old woman, diagnosed in childhood with type III glycogen storage disease, who 30 years after onset developed a hepatocellular carcinoma with portal thrombosis in the context of advanced cirrhosis. This is the first case to be reported in the Spanish literature of type III glycogen storage disease associated with hepatocellular carcinoma
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Collection:
National databases
/
Spain
Database:
IBECS
Main subject:
Glycogen Storage Disease Type III
/
Carcinoma, Hepatocellular
/
Liver Neoplasms
Type of study:
Risk factors
Limits:
Adult
/
Female
/
Humans
Language:
Spanish
Journal:
Gastroenterol. hepatol. (Ed. impr.)
Year:
2005
Document type:
Article
Institution/Affiliation country:
Hospital Donosita/España
/
Hospital Infantil La Paz/España