Oguz F, Sidal M, Bayram C, Sansoy N, Hekim N
Department of Paediatrics, University of Istanbul, Faculty of Medicine, Turkey.
Eur J Pediatr. 1993 Aug;152(8):671-3. doi: 10.1007/BF01955245.
Congenital erythropoietic porphyria (Gunther disease, CEP) is a rare autosomal recessive disorder of haeme biosynthesis. It is characterized by extreme photosensitivity and the excretion of large amounts of uroporphyrin I and coproporphyrin I in the urine and coproporphyrin I in the faeces. We have diagnosed two cases of congenital erythropoietic porphyria, who were first cousins once removed. They had recurrent skin bullae, scarring on the face and hands, hirsutism, discoloured fluorescent teeth, red urine, increased haemolysis and grossly increased excretion of porphyrin. Both children had blepharitis and their sclera gave pink fluorescence under long wave ultraviolet light, mainly in the interpalpebral fissures. All the features of our two patients, except the ocular lesions, conformed to cases of CEP reported in the literature. We have encountered no other reports on ocular lesions in CEP since first described by Chumbley in 1977.
先天性红细胞生成性卟啉病（Gunther病，CEP）是一种罕见的常染色体隐性遗传性血红素生物合成障碍疾病。其特征为极端的光敏感性，尿液中大量排出尿卟啉原I和粪卟啉原I，粪便中排出粪卟啉原I。我们诊断了2例先天性红细胞生成性卟啉病患者，他们是隔了一代的堂表亲。他们反复出现皮肤大疱、面部和手部瘢痕形成、多毛症、牙齿荧光变色、红色尿液、溶血增加以及卟啉排泄显著增多。两个患儿均患有睑缘炎，其巩膜在长波紫外线下呈现粉红色荧光，主要位于睑裂间。我们这两名患者的所有特征，除眼部病变外，均与文献报道的CEP病例相符。自1977年Chumbley首次描述以来，我们未遇到其他关于CEP眼部病变的报道。
