Arndt T, Pelzer M, Nenoff P, Pelzer S, Lindeke A, Steinmetz A, Haustein U F
Institut für Laboruntersuchungen Ingelheim GmbH, Ingelheim.
Hautarzt. 2000 Jul;51(7):490-5. doi: 10.1007/s001050051159.
The clinical differentiation of the hereditary ichthyosis forms is difficult and without laboratory markers hardly possible. Serum lipoprotein electrophoresis is one tool for detecting patients with recessive X-linked ichthyosis (XRI). Compared to controls, XRI patients show elevated electrophoretic mobilities of low density (LDL) and very low density lipoproteins (VLDL). This change in pattern is only partially explained by the increased LDL cholesterin sulfate concentration and is the subject of this study.
PATIENTS/METHODS: Patients suffering from XRI and ichthyosis vulgaris, healthy controls. SDS-PAGE-electrophoresis and isoelectric focusing for detection of XRI-associated variations in apolipoproteins apo B-100, apo C-III and apo E.
XRI-associated apolipoprotein variants were not found. In contrast to the literature, an increased electrophoretic mobility was also observed for HDL (high density lipoproteins) from XRI patients.
The underlying cause of the increased electrophoretic mobility of VLDL and HDL in XRI patients remains unclear. Future studies should investigate other apolipoproteins and verify the cholesterin sulfate concentrations reported for VLDL and HDL from XRI patients.
遗传性鱼鳞病各型的临床鉴别存在困难，若没有实验室指标几乎无法进行。血清脂蛋白电泳是检测隐性X连锁鱼鳞病（XRI）患者的一种工具。与对照组相比，XRI患者的低密度脂蛋白（LDL）和极低密度脂蛋白（VLDL）的电泳迁移率升高。这种模式变化仅部分由硫酸胆固醇LDL浓度升高所解释，这也是本研究的主题。
患者/方法：患有XRI和寻常型鱼鳞病的患者、健康对照。采用十二烷基硫酸钠-聚丙烯酰胺凝胶电泳（SDS-PAGE）和等电聚焦法检测与XRI相关的载脂蛋白apo B-100、apo C-III和apo E的变异。
未发现与XRI相关的载脂蛋白变异。与文献报道相反，XRI患者的高密度脂蛋白（HDL）也观察到电泳迁移率增加。
XRI患者VLDL和HDL电泳迁移率增加的根本原因尚不清楚。未来的研究应调查其他载脂蛋白，并验证XRI患者VLDL和HDL的硫酸胆固醇浓度报告。
