Linked Life Data

21168376

Source:http://linkedlifedata.com/resource/pubmed/id/21168376

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2011-2-25
pubmed:abstractText
Generalized congenital lipodystrophy or Berardinelli-Seip Syndrome is a rare autosomal recessive condition characterized by the absence of adipose tissue and eventually a defect in leptin synthesis. Affected subjects tend to show a classical phenotype with acromegaloid appearance, generalized atrophy of subcutaneous adipose tissue with muscular hypertrophy, acanthosis nigricans, hepatomegaly and prominent abdomen. From metabolic point of view and as a consequence of leptin absence, hypertriglyceridemia leading to hepatic steatosis and insulin resistance may appear. Two cases of unrelated subjects affected of generalized congenital lipodystrophy are presented. Both developed difficult-to-manage diabetes mellitus and were treated with high doses of insulin. In both cases early microvascular complications were present. A mutation for LMNA gene was found in one of the subjects.
pubmed:commentsCorrections
pubmed:language
spa
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1695-9531
pubmed:author
pubmed:copyrightInfo
Copyright © 2010 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.
pubmed:issnType
Electronic
pubmed:volume
74
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
126-30
pubmed:dateRevised
2011-7-19
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
[Difficult to manage diabetes mellitus associated with generalized congenital lipodystrophy. Report of two cases].
pubmed:affiliation
Unidad de Diabetes, Sección de Endocrinología, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain. rcardona@hsjdbcn.org
pubmed:publicationType
Journal Article, English Abstract, Case Reports