Linked Life Data

7926432

Source:http://linkedlifedata.com/resource/pubmed/id/7926432

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1994-10-24
pubmed:abstractText
We report a case of cystic fibrosis diagnosed in a 27-year-old man complaining of diarrhoea which was present for 2 years. The diagnosis was suspected upon the association of exocrine pancreatic insufficiency, massive hepatic steatosis, pulmonary infiltrates on chest radiograph, and moderate alterations of pulmonary function tests. It was confirmed by positive sweat tests. Study of the cystic fibrosis gene demonstrated a compound heterozygosity for delta F508 deletion and for mutation W1282X. Diagnosis of cystic fibrosis after the age of 25 is a rare event and the 25 hitherto published case reports are analysed after obtention of more detailed information for the authors. The existence of cases of late diagnosis might be explained by genetic heterogeneity.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0399-8320
pubmed:author
pubmed:issnType
Print
pubmed:volume
18
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
195-9
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
[Mucoviscidosis discovered after the age of 25 years. Review and follow-up of cases of the literature].
pubmed:affiliation
Service d'Hépato-Gastroentérologie, Hôpital Saint-Lazare, Paris.
pubmed:publicationType
Journal Article, English Abstract, Review, Case Reports