Magnin P H, del C Batlle A M, de Xifra E A, Lenczner M, Parera V E, Stella A M
Int J Dermatol. 1982 Apr;21(3):142-7. doi: 10.1111/j.1365-4362.1982.tb02060.x.
Inheritance in 30 cases of porphyria cutanea tarda (PCT) and their relatives was investigated. Seventeen families were studied using the clinical criteria, quantitation, and thin layer chromatography of urinary porphyrins. Thirteen families (13 propositus and 48 relatives) were investigated by using the above criteria and in vitro porphyrin biosynthesis by erythrocytes from delta-aminolevulinic acid. Three different types of PCT were identified: overt, subclinical, and latent. Among 61 members examined, 13 had overt PCT. In six families, ten members had subclinical PCT and six latent PCT showing that in these six families PCT was a hereditary disorder. In seven other families inheritance could not be demonstrated.
对30例迟发性皮肤卟啉病（PCT）患者及其亲属的遗传情况进行了调查。使用临床标准、尿卟啉定量和薄层层析法对17个家族进行了研究。通过上述标准以及用δ-氨基乙酰丙酸进行红细胞体外卟啉生物合成，对13个家族（13名先证者和48名亲属）进行了调查。确定了三种不同类型的PCT：显性、亚临床和潜伏性。在检查的61名成员中，13人患有显性PCT。在6个家族中，10名成员患有亚临床PCT，6名患有潜伏性PCT，表明在这6个家族中PCT是一种遗传性疾病。在其他7个家族中未能证实存在遗传现象。
