Mustajoki P, Kauppinen R, Lannfelt L, Lilius L, Koistinen J
Third Department of Medicine, University of Helsinki, Finland.
J Intern Med. 1992 Apr;231(4):389-95. doi: 10.1111/j.1365-2796.1992.tb00949.x.
The frequency of low erythrocyte porphobilinogen deaminase (PBGD) activity was investigated in 2234 blood donors and in 30 patients with acute intermittent porphyria. The mean enzyme activities (+/- SD) were 3.38 +/- 0.58 U and 1.82 +/- 0.41 U, respectively. Eighteen blood donors without any history of symptoms of porphyria or haematological disease had low PBGD activity (less than 2.20 U), and they were studied further. All of them also had subnormal concentrations of the erythrocyte enzyme protein, as determined by an immunological method. Lymphocyte PBGD activity was within the normal range, but this parameter does exhibit a wide overlap between normal and porphyric values. Urinary excretion of porphobilinogen was moderately increased in two of the blood donors. In four of the 18 families of the blood donors with low PBGD activity several first-degree relatives had low erythrocyte enzyme activity, consistent with a dominant mode of inheritance. The 5-aminolaevulinic acid loading-test was normal in the blood donors with familial occurrence of low erythrocyte PBGD. It is concluded that inherited defects in erythrocyte PBGD occurred among Finnish blood donors with a frequency of about 1 in 500. The defects may be identical with those in acute intermittent porphyria (AIP), but other mechanisms are also possible, e.g. a mutation in the erythroid-specific part of the PBGD gene.
对2234名献血者和30例急性间歇性卟啉病患者的红细胞胆色素原脱氨酶（PBGD）低活性频率进行了研究。平均酶活性（±标准差）分别为3.38±0.58 U和1.82±0.41 U。18名无卟啉病或血液系统疾病症状史的献血者PBGD活性低（低于2.20 U），对他们进行了进一步研究。通过免疫学法测定，他们所有人的红细胞酶蛋白浓度也均低于正常水平。淋巴细胞PBGD活性在正常范围内，但该参数在正常和卟啉病患者的值之间确实存在很大重叠。两名献血者的尿胆色素原排泄中度增加。在18名PBGD活性低的献血者家庭中，有4个家庭的几名一级亲属红细胞酶活性低，这与显性遗传模式一致。红细胞PBGD活性低且有家族聚集现象的献血者，其5-氨基酮戊酸负荷试验正常。得出结论，芬兰献血者中红细胞PBGD的遗传性缺陷发生率约为1/500。这些缺陷可能与急性间歇性卟啉病（AIP）中的缺陷相同，但也可能有其他机制，例如PBGD基因红系特异性部分的突变。
