Source:http://linkedlifedata.com/resource/pubmed/id/10551400
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions |
umls-concept:C0001675,
umls-concept:C0002871,
umls-concept:C0008384,
umls-concept:C0015295,
umls-concept:C0019904,
umls-concept:C0023794,
umls-concept:C0025470,
umls-concept:C0026882,
umls-concept:C0032105,
umls-concept:C0205144,
umls-concept:C0205217,
umls-concept:C0253005,
umls-concept:C0441655,
umls-concept:C0544512
|
| pubmed:issue |
4
|
| pubmed:dateCreated |
1999-12-6
|
| pubmed:abstractText |
A 36-year-old woman was admitted for hepatosplenomegaly and anemia. Bone marrow cytology showed "sea-blue histiocytes", vacuolated macrophages and plasma cells. As primary liver disease, malignancy or hematologic disorders were excluded, and plasma chitotriosidase activity was increased 27-fold over control, the presence of a lysosomal storage disease was suspected. Biochemical analysis of skin fibroblasts revealed normal glucocerebrosidase and sphingomyelinase activity, but lipid analysis showed a more than 15-fold accumulation of cholesterol esters within the cells. The activity of lysosomal acid lipase (LAL) in fibroblast homogenates was decreased to 12% of control subjects. Mutational analysis of the patient's blood showed the homozygous G-->A mutation at position -1 of the exon 8 splice donor site (E8SJM-allele) known for adult cholesteryl ester storage disease (CESD); the polymorphic background was that of the complex haplotype -6Thr, 2Gly, 894 G-->A. Based on clinical, laboratory, cytological and and biochemical findings, CESD can clearly be separated from other more frequent inherited lysosomal storage diseases, e.g. atypical forms of Gaucher disease.
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| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/DNA, Recombinant,
http://linkedlifedata.com/resource/pubmed/chemical/Hexosaminidases,
http://linkedlifedata.com/resource/pubmed/chemical/Isoenzymes,
http://linkedlifedata.com/resource/pubmed/chemical/Lipase,
http://linkedlifedata.com/resource/pubmed/chemical/chitotriosidase
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Oct
|
| pubmed:issn |
0168-8278
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
31
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
741-6
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:10551400-Adult,
pubmed-meshheading:10551400-Anemia,
pubmed-meshheading:10551400-Cholesterol Ester Storage Disease,
pubmed-meshheading:10551400-DNA, Recombinant,
pubmed-meshheading:10551400-Diagnosis, Differential,
pubmed-meshheading:10551400-Exons,
pubmed-meshheading:10551400-Female,
pubmed-meshheading:10551400-Gaucher Disease,
pubmed-meshheading:10551400-Hepatomegaly,
pubmed-meshheading:10551400-Hexosaminidases,
pubmed-meshheading:10551400-Homozygote,
pubmed-meshheading:10551400-Humans,
pubmed-meshheading:10551400-Isoenzymes,
pubmed-meshheading:10551400-Lipase,
pubmed-meshheading:10551400-Lipidoses,
pubmed-meshheading:10551400-Lipodystrophy,
pubmed-meshheading:10551400-Lysosomes,
pubmed-meshheading:10551400-Mesentery,
pubmed-meshheading:10551400-Mutation,
pubmed-meshheading:10551400-Splenomegaly
|
| pubmed:year |
1999
|
| pubmed:articleTitle |
Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction mutation.
|
| pubmed:affiliation |
Division of Gastroenterology, Hepatology and Infectious Diseases, Heinrich-Heine-University, Düsseldorf, Germany.
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| pubmed:publicationType |
Journal Article,
Case Reports
|