Castaño Suárez E, Zamarro Sanz O, Guerra Tapia A, Enríquez de Salamanca R
Department of Dermatology, Hospital 12 de Octubre, Madrid, Spain.
Dermatology. 1996;193(4):332-5. doi: 10.1159/000246284.
Hepatoerythropoietic porphyria is characterized by an early beginning of severe photosensitivity, with an increase in urinary uroporphyrin excretion and other porphyrins, high isocoproporphyrin fecal levels and an accumulation of protoporphyrin in erythrocytes. It is caused by a dramatic decrease in the activity of the uroporphyrinogen decarboxylase. We report a clinical, biochemical and enzymatic study in a family, where a 2-year-old girl suffers from a hepatoerythropoietic porphyria, and the patient's maternal uncle from a porphyria cutanea tarda. We discuss the relationship between these diseases and their known mutations.
肝红细胞生成性卟啉病的特征是严重光敏性发病早，尿中尿卟啉及其他卟啉排泄增加，粪中异粪卟啉水平高，红细胞中原卟啉蓄积。它是由尿卟啉原脱羧酶活性急剧下降引起的。我们报告了一个家系的临床、生化和酶学研究，其中一名2岁女孩患有肝红细胞生成性卟啉病，患者的舅舅患有迟发性皮肤卟啉病。我们讨论了这些疾病之间的关系及其已知的突变。
