Kuklinski B, Zimmermann R, Rühlmann C, Nagel R, Tessmann D
Klinik für Innere Medizin, Universität Leipzig.
Z Gesamte Inn Med. 1991 Oct;46(14):505-11.
In a 26-year-old patient there have been benign enlargements of the lymphatic nodes and a splenomegaly since the end of the adolescence. In the 21st year of age the diagnosis of a Tangier disease was made. Allogenic HDL-rich serum fraction (COHN IV/1-fraction, prepared according to the modified method 6) infused under therapeutic aspect led to a prolonged increase of the serum total cholesterol and of the thrombocytes. The results pled for an activation of the reverse cholesterol transport. Excessively high malonic dialdehyde concentrations in the serum were relating to a "free radical"-associated metabolic defect, which was caused by the hypocholesterolaemia, the reduced transport capacity of vitamin E in the plasma and the nutrition poor in selenium and cholesterol, respectively. Under a nutritive antioxidant supplementation with sodium selenite and D-alpha-tocopherol a slight increase of the total cholesterol, of the thrombocytes as well as a normalization of the MDA values could be reached. The chronic oxidative stress appeared in the patient in a distinct lipofuscinosis of the skin and formations of naevus-cell naevi as an expression of massive denaturations of protein-lipids. In the Tangier disease we must reckon with an increased mutagenic effect of free radicals with an additional DNS repair capacity as well as an increased sensitivity to radical-generating cancerogenic xenobiotics.(ABSTRACT TRUNCATED AT 250 WORDS)
在一名26岁患者中，自青春期结束以来就出现了淋巴结良性肿大和脾肿大。在21岁时确诊为丹吉尔病。从治疗角度输注富含同种异体高密度脂蛋白的血清组分（根据改良方法6制备的COHN IV/1组分）导致血清总胆固醇和血小板持续升高。这些结果支持逆向胆固醇转运的激活。血清中过高的丙二醛浓度与一种“自由基”相关的代谢缺陷有关，这种缺陷分别由低胆固醇血症、血浆中维生素E转运能力降低以及硒和胆固醇缺乏的营养状况引起。在补充亚硒酸钠和D-α-生育酚的营养抗氧化剂后，总胆固醇、血小板略有增加，丙二醛值恢复正常。该患者的慢性氧化应激表现为皮肤明显的脂褐质沉着和痣细胞痣的形成，这是蛋白质-脂质大量变性的表现。在丹吉尔病中，我们必须考虑自由基诱变作用增加以及额外的DNA修复能力，以及对产生自由基的致癌性外源性物质的敏感性增加。（摘要截断于250字）
