广岛地区类固醇硫酸酯酶缺乏症的发病率

Frequency of steroid sulfatase deficiency in Hiroshima.

作者信息

Sakura N, Nishimura S I, Matsumoto T, Ohsaki M

机构信息

Department of Pediatrics, Hiroshima University School of Medicine, Japan.

出版信息

Acta Paediatr Jpn. 1998 Feb;40(1):63-4. doi: 10.1111/j.1442-200x.1998.tb01404.x.

DOI:10.1111/j.1442-200x.1998.tb01404.x

PMID:9583203

Abstract

A retrospective survey was performed between 1983 and 1995 to determine the frequency of steroid sulfatase (STS) deficiency in Hiroshima. Males with ichthyosis were diagnosed enzymatically. During 1979-95 in Hiroshima Prefecture, 275,943 males were born and 28 had STS deficiency. The observed frequency of STS deficiency was 1 per 9855 males. Therefore, STS deficiency is fairly prevalent in Japan.

摘要

1983年至1995年间进行了一项回顾性调查，以确定广岛地区类固醇硫酸酯酶（STS）缺乏症的发病率。对患有鱼鳞病的男性进行酶学诊断。1979年至1995年期间，广岛县有275,943名男性出生，其中28名患有STS缺乏症。观察到的STS缺乏症发病率为每9855名男性中有1例。因此，STS缺乏症在日本相当普遍。