Meyer J C, Gilardi S
Hautarzt. 1986 Apr;37(4):205-9.
Steroid sulfatase (STS) and aryl sulfatase C (ASC) in leucocytes, as well as the electrophoretic mobility of the beta-lipoproteins, were analyzed in 34 patients with autosomal dominant ichthyosis (ADI), 18 patients with X-linked recessive ichthyosis (XRI), 7 patients with congenital nonbullous ichthyosis (CNBI), and 48 controls. The geometric means of both STS and ASC were significantly lower in the group of XRI by a factor of approximately 10. Analysis of ASC showed a clear separation of the whole group of XRI patients opposed to patients with ADI and CNBI and the controls, whereas an overlapping was observed for STS. With one exception, the clinical and biochemical diagnosis (sulfatase) was confirmed by the results of the lipoprotein electrophoresis (LPE). This case, clinically and biochemically diagnosed as XRI, exhibited normal electrophoretic mobility of beta-lipoproteins. We conclude: if the electrophoretic mobility of beta-lipoproteins is enhanced, XRI can be diagnosed; if the LPE is normal, XRI cannot be excluded; in this case, the diagnosis of XRI can be confirmed or rejected by analysis of the microsomal sulfatases.
对34例常染色体显性鱼鳞病（ADI）患者、18例X连锁隐性鱼鳞病（XRI）患者、7例先天性非大疱性鱼鳞病（CNBI）患者以及48名对照者的白细胞中的类固醇硫酸酯酶（STS）和芳基硫酸酯酶C（ASC），以及β-脂蛋白的电泳迁移率进行了分析。XRI组中STS和ASC的几何平均值均显著降低，约为10倍。对ASC的分析显示，整个XRI患者组与ADI、CNBI患者及对照者有明显区分，而STS则存在重叠。除1例例外，脂蛋白电泳（LPE）结果证实了临床和生化诊断（硫酸酯酶）。该病例临床和生化诊断为XRI，但β-脂蛋白的电泳迁移率正常。我们得出结论：如果β-脂蛋白的电泳迁移率增强，则可诊断为XRI；如果LPE正常，则不能排除XRI；在此情况下，可通过分析微粒体硫酸酯酶来确诊或排除XRI诊断。
