Tangier disease in a Turkish family
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Tarih
2014
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Wiley-Blackwell
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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.
Açıklama
KISA, Ucler/0000-0002-8131-6810
Anahtar Kelimeler
children, gastrointestinal tract, high-density lipoprotein, lipid metabolism, Tangier disease
Kaynak
Pediatrics International
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
56
Sayı
5
Künye
closedAccess
