Gucev Zoran, Slavevska Nevenka, Tasic Velibor, Laban Nevenka, Pop-Jordanova Nada, Danilovski Dragan, Woolf Jacqueline, Cole Duncan
Clinical Center, Faculty of Medicine Skopje, 50 Divizija BB, 1000 Skopje, Macedonia.
Indian J Hum Genet. 2011 May;17(2):104-7. doi: 10.4103/0971-6866.86199.
Congenital erythropoietic porphyria (CEP) is an autosomal recessive inborn error of metabolism that results from the markedly deficient activity of uroporphyrinogen III synthase (UROS). We describe a 14-year-old girl with red urine since infancy, progressive blistering and scarring of the skin, and moderate hemolytic anemia. After years of skin damage, her face is mutilated; she has a bald patch on the scalp, hypertrichosis of the neck, areas of skin darkening, and limited joint movements of the hands. Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. Sequencing of the UROS gene identified two mutations causing CEP (Cys73Arg, Thr228Met). The patient lesions are progressing. Bone marrow transplantation and/or gene therapy are proposed as the next steps in her treatment. In brief, we describe a CEP with confirmed two pathogenic mutations, severe phenotype and discuss the various treatment options available.
先天性红细胞生成性卟啉病（CEP）是一种常染色体隐性遗传的先天性代谢紊乱疾病，由尿卟啉原III合成酶（UROS）活性显著缺乏所致。我们描述了一名14岁女孩，自婴儿期起即出现红色尿液，皮肤进行性水疱形成和瘢痕形成，伴有中度溶血性贫血。经过多年的皮肤损伤，她的面部严重毁损；头皮有秃斑，颈部多毛，皮肤有色素沉着区域，手部关节活动受限。尿总排泄量和粪便总卟啉均明显高于正常水平。对UROS基因进行测序，发现了两个导致CEP的突变（Cys73Arg、Thr228Met）。患者的病变仍在进展。建议下一步对她进行骨髓移植和/或基因治疗。简而言之，我们描述了一例确诊有两个致病突变、具有严重表型的CEP，并讨论了现有的各种治疗选择。
