Aguadé J P, Herrero C, Almeida J, Smith S G, Belcher R V
Br J Dermatol. 1975 Sep;93(3):277-89. doi: 10.1111/j.1365-2133.1975.tb06493.x.
The porphyrin metabolism of 100 patients with porphyria and 351 of their relatives has been studied. Thin layer chromatography of methyl esters of the urinary porphyrin was undertaken in sixty-six patients with different types of porphyria, and forty-five relatives, seventeen patients with hepatic cirrhosis, three patients with lead poisoning and twenty normal control subjects. This investigation was also made on the stools of thirty-six patients with porphyria, and then of their relatives. Countercurrent analysis of the bile of nine selected patients with porphyria was also undertaken. The results provide some evidence that symptomatic hepatic porphyria may be familial. Thin layer chromatography was decisive in the characterization of a new type of porphyria described recently by the authors (hepato-erythrocytic porphyria). The counter-current examination of the bile showed the absence of the 'S 411' porphyrin in all the nine cases investigated.
对100例卟啉病患者及其351名亲属的卟啉代谢进行了研究。对66例不同类型卟啉病患者、45名亲属、17例肝硬化患者、3例铅中毒患者和20名正常对照者的尿卟啉甲酯进行了薄层色谱分析。还对36例卟啉病患者及其亲属的粪便进行了此项研究。对9例选定的卟啉病患者的胆汁进行了逆流分析。结果提供了一些证据,表明症状性肝卟啉病可能具有家族性。薄层色谱法对于作者最近描述的一种新型卟啉病(肝红细胞性卟啉病)的特征鉴定起了决定性作用。对胆汁的逆流检查显示,在所研究的所有9例病例中均不存在“S 411”卟啉。