Tangier disease in a Turkish family

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dc.contributor.authorSahiner, Neriman
dc.contributor.authorKocak, Mukadder
dc.contributor.authorDemirceken, Fulya
dc.contributor.authorKisa, Ucler
dc.contributor.authorAyva, Sebnem
dc.contributor.authorKazkayasi, Mustafa
dc.date.accessioned2020-06-25T18:12:06Z
dc.date.available2020-06-25T18:12:06Z
dc.date.issued2014
dc.departmentKırıkkale Üniversitesi
dc.descriptionKISA, Ucler/0000-0002-8131-6810
dc.description.abstractIn this report we describe the upper gastrointestinal tractus involvement in a rare genetic disease of lipid metabolism. A 12-year-old boy presented with sore throat and fever. On physical examination, orange-yellow tonsils and adenoid tissue were noted. Mild hepatosplenomegaly was present. Lipid profile was compatible with Tangier disease (TD). Endoscopy of the upper gastrointestinal tract showed white-yellowish fatty deposits on the gastric mucosa. Microscopically, biopsy specimens contained numerous histiocytes with a foamy cytoplasm packed in the lamina propria of the gastric mucosa and at the crypt basement of the duodenum. His sister, 8 years old, was also diagnosed with TD based on abnormal lipid profile and orange-yellow tonsils. TD is a rare familial disorder of lipid metabolism, characterized by deposition of cholesteryl esters, probably involving the entirety of the gastrointestinal tract from the mouth to the anus.en_US
dc.identifier.citationclosedAccessen_US
dc.identifier.doi10.1111/ped.12306
dc.identifier.endpage779en_US
dc.identifier.issn1328-8067
dc.identifier.issn1442-200X
dc.identifier.issue5en_US
dc.identifier.pmid25335997
dc.identifier.scopus2-s2.0-84939231899
dc.identifier.scopusqualityQ3
dc.identifier.startpage777en_US
dc.identifier.urihttps://doi.org/10.1111/ped.12306
dc.identifier.urihttps://hdl.handle.net/20.500.12587/5727
dc.identifier.volume56en_US
dc.identifier.wosWOS:000344243200030
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherWiley-Blackwellen_US
dc.relation.ispartofPediatrics International
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectchildrenen_US
dc.subjectgastrointestinal tracten_US
dc.subjecthigh-density lipoproteinen_US
dc.subjectlipid metabolismen_US
dc.subjectTangier diseaseen_US
dc.titleTangier disease in a Turkish familyen_US
dc.typeArticle

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