Piraud M, Cambazard F, Barrut D
Laboratoire d'enzymologie, Hôpital Debrousse, Lyon, France.
Pediatrie. 1990;45(2):133-40.
Steroidsulfatase and arylsulfatase C were determined in fibroblasts and/or leukocytes of patients affected with different types of ichthyosis. Of the 21 patients studied, 11 showed clinical characteristics of X-linked ichthyosis (XLI) and a deficiency of these 2 enzymatic activities. Patients affected with other types of ichthyosis showed no enzymatic deficiency. In XLI families diagnosis of heterozygotes was performed by enzymatic measurements in the 5 patients' mothers studied. In 2 families enzymatic activities were studied in patients' sisters. The validity of these different enzymatic measurements is discussed.
在患有不同类型鱼鳞病的患者的成纤维细胞和/或白细胞中测定了类固醇硫酸酯酶和芳基硫酸酯酶C。在研究的21名患者中,11名表现出X连锁鱼鳞病(XLI)的临床特征以及这两种酶活性的缺乏。患有其他类型鱼鳞病的患者未表现出酶缺乏。在XLI家族中,通过对所研究的5名患者母亲进行酶活性测定来诊断杂合子。在2个家族中,对患者的姐妹进行了酶活性研究。讨论了这些不同酶活性测定的有效性。