Zix-Kieffer I, Langer B, Eyer D, Acar G, Racadot E, Schlaeder G, Oberlin F, Lutz P
Unité d'Onco-Hématologie, Institut de Puériculture, Strasbourg, France.
Bone Marrow Transplant. 1996 Jul;18(1):217-20.
Congenital erythropoietic porphyria (Gunther's disease, GD) is a rare autosomal recessive disease. It results from the deficiency of uroporphyrinogen III synthase, the fourth enzyme on the metabolic pathway of heme synthesis. GD leads to severe scarring of the face and hands as a result of photosensitivity and fragility of the skin due to uroporphyrin I and coproporphyrin I accumulation. It also causes erythrocyte fragility leading to haemolytic anaemia. The other clinical features include hirsutism, red discolouration of teeth, finger-nails and urine and stunted growth. The outcome is poor, and the disfiguring nature of GD may partly explain the legend of the werewolf. No curative treatment was known until 1991, when the first case of BMT in GD was reported. The clinical and biological outcome after transplantation was encouraging, with an important regression of the symptoms of the disease, but the child died of CMV-infection 11 months after BMT. We report the second case of GD treated successfully by stem cell transplantation using umbilical cord blood from an HLA-identical brother in a 4-year-old girl suffering from severe GD. Our patient is very well 10 months after transplantation. We confirm that stem cell transplantation is curative for GD.
先天性红细胞生成性卟啉病（贡瑟病，GD）是一种罕见的常染色体隐性疾病。它是由于尿卟啉原III合酶缺乏所致，该酶是血红素合成代谢途径中的第四个酶。由于尿卟啉I和粪卟啉I的积累导致皮肤光敏性和脆弱性，GD会导致面部和手部严重瘢痕形成。它还会引起红细胞脆性增加，导致溶血性贫血。其他临床特征包括多毛症、牙齿、指甲和尿液发红以及生长发育迟缓。预后较差，GD的毁容性质可能部分解释了狼人的传说。直到1991年报道了第一例GD患者接受骨髓移植（BMT）的病例，此前尚无治愈性治疗方法。移植后的临床和生物学结果令人鼓舞，疾病症状有显著消退，但该患儿在BMT后11个月死于巨细胞病毒感染。我们报告了第二例成功接受干细胞移植治疗的GD病例，该4岁患有严重GD的女孩使用了来自HLA相同的哥哥的脐带血。移植后10个月，我们的患者情况良好。我们证实干细胞移植对GD具有治愈作用。
