Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2002-5-2
pubmed:abstractText
Gaucher disease, the inherited deficiency of the lysosomal enzyme glucocerebrosidase, manifests with a continually expanding range of clinical features. Noting that a number of adult patients with type 1 Gaucher disease also had gallstones, we reviewed the clinical records of 66 adult patients evaluated at the National Institutes of Health with type 1 Gaucher disease. Twenty-one patients were identified who had either gallstones or a history of cholecystectomy. Of the 21 patients, 6 were male. The age at which stones were noted ranged from 19 to 70 years (mean 39 years). Thirteen of the patients had a cholecystectomy performed. Several different factors may contribute to the development of gallstones in these patients, including anemia, prior splenectomy, and hepatic involvement. Eleven of the patients were found to have chronic anemia. Fifteen of the patients underwent splenectomy. An increased biliary excretion of glucosylceramide could also contribute to cholelithiasis. To determine whether our findings were specific to our referral population, the medical records of a second series of 80 adult patients of Ashkenazi Jewish ancestry with type 1 Gaucher disease followed in Northern Israel were reviewed. Sixteen of these patients (5 male, 11 female) were also noted to have gallstones. Thus, the frequency of gallbladder involvement in patients with Gaucher disease appears to be greater than previously appreciated.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1079-9796
pubmed:author
pubmed:issnType
Print
pubmed:volume
28
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
21-7
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:articleTitle
Cholelithiasis in patients with Gaucher disease.
pubmed:affiliation
Department of Hematology, Rambam Medical Center and Bruce Rappaport Faculty of Medicine, Technion, Haifa, Israel.
pubmed:publicationType
Journal Article