dc.contributor.author | Sahiner, Neriman | |
dc.contributor.author | Kocak, Mukadder | |
dc.contributor.author | Demirceken, Fulya | |
dc.contributor.author | Kisa, Ucler | |
dc.contributor.author | Ayva, Sebnem | |
dc.contributor.author | Kazkayasi, Mustafa | |
dc.date.accessioned | 2020-06-25T18:12:06Z | |
dc.date.available | 2020-06-25T18:12:06Z | |
dc.date.issued | 2014 | |
dc.identifier.citation | closedAccess | en_US |
dc.identifier.issn | 1328-8067 | |
dc.identifier.issn | 1442-200X | |
dc.identifier.uri | https://doi.org/10.1111/ped.12306 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12587/5727 | |
dc.description | KISA, Ucler/0000-0002-8131-6810 | en_US |
dc.description | WOS: 000344243200030 | en_US |
dc.description | PubMed: 25335997 | en_US |
dc.description.abstract | In 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.language.iso | eng | en_US |
dc.publisher | Wiley-Blackwell | en_US |
dc.relation.isversionof | 10.1111/ped.12306 | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | children | en_US |
dc.subject | gastrointestinal tract | en_US |
dc.subject | high-density lipoprotein | en_US |
dc.subject | lipid metabolism | en_US |
dc.subject | Tangier disease | en_US |
dc.title | Tangier disease in a Turkish family | en_US |
dc.type | article | en_US |
dc.contributor.department | Kırıkkale Üniversitesi | en_US |
dc.identifier.volume | 56 | en_US |
dc.identifier.issue | 5 | en_US |
dc.identifier.startpage | 777 | en_US |
dc.identifier.endpage | 779 | en_US |
dc.relation.journal | Pediatrics International | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |