Linked Life Data

20432820

Source:http://linkedlifedata.com/resource/pubmed/id/20432820

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
2010-5-3
pubmed:abstractText
Congenital hyperinsulinism (CHI) is responsible for profound hypoglycaemia which needs aggressive treatment in order to prevent neurological damage. Mutations in seven different genes have been held responsible for the inappropriate insulin secretion, typical of this condition. The most common cause of CHI is autosomal recessive mutations in the ABCC8 and KCNJ11 genes which encode for two subunits (SUR 1 and Kir6.2, respectively) of the pancreatic B-cell ATP-sensitive potassium channel. Furthermore, histopathological lesions, diffuse and focal, have been associated with different genetic alterations. [18F]Fluorodopa PET/CT imaging, in most cases, differentiates focal from diffuse disease and is 100% accurate in localizing the focal lesion. Recently laparoscopic pancreatectomy has been performed and is curative in the focal form. We report a case in which clinical experience together with rapid genetic analysis, imaging with 18F-DOPA-PET/CT and laparoscopic surgery, were able to guide the correct clinical management of this condition.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0334-018X
pubmed:author
pubmed:issnType
Print
pubmed:volume
23
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
171-7
pubmed:meshHeading
pubmed:articleTitle
Rapid genetic analysis, imaging with 18F-DOPA-PET/CT scan and laparoscopic surgery in congenital hyperinsulinism.
pubmed:affiliation
Maternal-infant Institute, Pediatric Endocrinology Centre, Polytechnic University of Marche, Ancona, Italy. v.cherubini@univpm.it
pubmed:publicationType
Journal Article, Case Reports