丹吉尔病。一项组织学和超微结构研究。

Tangier disease. A histological and ultrastructural study.

作者信息

Dechelotte P, Kantelip B, de Laguillaumie B V, Labbe A, Meyer M

出版信息

Pathol Res Pract. 1985 Oct;180(4):424-30. doi: 10.1016/S0344-0338(85)80116-3.

Abstract

A case of Tangier disease with results of histological and ultrastructural studies is reported. The clinical, biological and histological picture was typical, with enlarged liver and spleen, voluminous tonsils, low blood levels of alpha-lipoproteins and cholesterol and high blood levels of triglycerides. The histological study revealed widespread tissue storage of cholesterol esters in the Mononuclear Phagocyte System. Lipid deposits were located in foamy histiocytes by staining with lipid-specific stains. The ultrastructural study revealed intracytoplasmic vacuoles unbounded by membranes and often confluent. Unlike other previously described cases, this one had a rapid fatal outcome.

摘要

报告了一例伴有组织学和超微结构研究结果的丹吉尔病病例。临床、生物学和组织学表现典型，有肝脏和脾脏肿大、扁桃体肿大、血液中α脂蛋白和胆固醇水平低以及甘油三酯水平高。组织学研究显示单核吞噬细胞系统中胆固醇酯广泛组织蓄积。通过脂质特异性染色，脂质沉积位于泡沫状组织细胞中。超微结构研究显示胞质内有空泡，无膜包绕且常融合。与之前描述的其他病例不同，该病例有快速致命的结局。