先天性红细胞生成性卟啉病  

A case of congenital erythropoietic porphyria

作　　者：赵邑[1] 赵俊郁[1] 涂平[1] 朱学骏[1] 

机构地区：[1]北京大学第一医院皮肤科,北京100034

出　　处：《临床皮肤科杂志》2008年第9期594-595,共2页Journal of Clinical Dermatology

摘　　要：报告1例先天性红细胞生成性卟啉病。患者男，43岁。自幼有严重的光敏感及排红色尿，由于严重的光损伤，逐渐造成面部毁容、眼睑外翻及手部畸形。血液及尿液涂片在荧光显微镜下呈阳性反应，分光光度计检测发现血清在390-430nm及尿液在380-420nm范围有强吸收峰。A case of congenital erythropoietie porphyria is reported. A 43-year-old male showed severe photosensitivity and red urine since his childhood. The severe photo damage gradually caused his facial disfiguration, ectropion and hand malformation. Positive fluorescence of the blood and urine could be observed under fluorescent microscopy. Spectrophotometry for the serum and urine showed a strong absorption spectrum between 380 nm and 430 nm.

关 键 词：卟啉病 红细胞生成性 光敏感 

分 类 号：R758.4[医药卫生—皮肤病学与性病学]