de Verneuil H, Nordmann Y
Nouv Presse Med. 1981 Nov 28;10(43):3541-4.
The measurement of erythrocyte uroporphyrinogen decarboxylase is an easy method to divide porphyria cutanea symptomatica into two different types: (1) a familial type in which erythrocyte urodecarboxylase activity is reduced by about 50% in the patient and in apparently healthy members of his family, the inheritance pattern being consistent with an autosomal dominant trait; and (2) a more widespread sporadic type, with normal erythrocyte urodecarboxylase activity. In the familial type, the enzyme deficiency was found to be present in all tissues examined, whereas in the sporadic type it appears to be restricted to the liver.
(1)家族型,患者及其家族中表面健康的成员红细胞尿卟啉原脱羧酶活性降低约50%,遗传模式符合常染色体显性性状;(2)更常见的散发型,红细胞尿卟啉原脱羧酶活性正常。在家族型中,在所检查的所有组织中均发现酶缺乏,而在散发型中,酶缺乏似乎仅限于肝脏。