Tanigawa K, Takamura N, Yamashita S
Department of Preventive Medicine, Nagasaki University School of Medicine.
Nihon Rinsho. 1995 Jun;53(6):1422-6.
Congenital erythropoietic porphyria (CEP, Günther's disease) is an extremely rare autosomal recessive disease (There have been only 33 case reports in Japan to date.), characterized by mutilating cutaneous photosensitivity and abnormal haem synthesis in the bone marrow. Reduced activity of uroporphyrinogen III synthase (UROIIIS), the fourth enzyme of haem biosynthetic pathway causes this disease. Recent progresses of molecular biology enable us to analyze genetic defect at the molecular level of porphyrias. Also in CEP, it has been reported several reports of mutations of the UROIIIS gene since isolation of a full-length human cDNA encoding UROIIIS by Desnick et al. Here we report about epidemiology, signs and symptoms, laboratory findings and therapies of CEP.
先天性红细胞生成性卟啉病（CEP，贡瑟氏病）是一种极其罕见的常染色体隐性疾病（截至目前，日本仅有33例病例报告），其特征为严重的皮肤光敏感性以及骨髓中血红素合成异常。尿卟啉原III合酶（UROIIIS）作为血红素生物合成途径的第四步酶，其活性降低导致了这种疾病。分子生物学的最新进展使我们能够在卟啉病的分子水平上分析基因缺陷。同样在CEP中，自德斯尼克等人分离出编码UROIIIS的全长人类cDNA以来，已经有几篇关于UROIIIS基因突变的报道。在此，我们报告CEP的流行病学、体征和症状、实验室检查结果及治疗方法。
