Garg Kapil Kumar, Singh Harpreet
Department of Internal Medicine, PGIMS, Rohtak, India.
Eur J Case Rep Intern Med. 2016 Sep 22;3(7):000497. doi: 10.12890/2016_000497. eCollection 2016.
Porphyrias are a group of disorders caused by enzymatic defects in the biosynthesis of haem. Congenital erythropoietic porphyria (CEP) or Günther's disease is an extremely rare autosomal recessive disorder. Clinical manifestations include onset in infancy of blistering of sun-exposed areas, atrophic scars, mutilated fingers, and bright red fluorescence of the urine and teeth without neurological involvement. The only available prophylactic treatment for CEP is total avoidance of sunlight. A high degree of suspicion is required for the diagnosis. Early diagnosis is very important to prevent subsequent damage.
A rare case of congenital erythropoietic porphyria (CEP) without evidence of haemolysis is described.A high degree of suspicion is required for diagnosing CEP.Early diagnosis prevents further damage.
卟啉病是一组由血红素生物合成中的酶缺陷引起的疾病。先天性红细胞生成性卟啉病（CEP）或贡瑟病是一种极其罕见的常染色体隐性疾病。临床表现包括婴儿期暴露于阳光下的部位出现水疱、萎缩性瘢痕、手指残缺，以及尿液和牙齿发出亮红色荧光，且无神经受累。CEP唯一可用的预防性治疗方法是完全避免阳光照射。诊断需要高度怀疑。早期诊断对于预防后续损害非常重要。
描述了一例无溶血证据的罕见先天性红细胞生成性卟啉病（CEP）病例。诊断CEP需要高度怀疑。早期诊断可防止进一步损害。
