迟发性皮肤卟啉症和肝红细胞生成性卟啉症中尿卟啉原脱羧酶的酶学和免疫学研究
Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria.
作者信息
de Verneuil H, Beaumont C, Deybach J C, Nordmann Y, Sfar Z, Kastally R
出版信息
Am J Hum Genet. 1984 May;36(3):613-22.
Uroporphyrinogen decarboxylase activity was measured in hemoglobin-free lysates from two patients with hepatoerythropoietic porphyria (HEP) and from 12 unrelated patients with familial porphyria cutanea tarda (PCT). In HEP patients, enzyme activities were 5% of normal, and familial studies clearly confirmed that patients with HEP are cases of homozygous PCT. Immunoreactive uroporphyrinogen decarboxylase was measured by developing a direct and noncompetitive enzyme immunoassay (EIA). For the 12 familial PCT patients, we found an immunoreactive protein decreased (51%) to the same extent as the catalytic activity (48%) [cross-reactive immunological material ( CRIM ) negative]. The children from the HEP family were also CRIM negative, contrasting with another HEP family previously described as CRIM positive; our data support the hypothesis of a heterogeneity in familial uroporphyrinogen decarboxylase deficiency.
在两名肝红细胞生成性卟啉病（HEP）患者以及12名无关的迟发性皮肤卟啉病（PCT）家族性患者的无血红蛋白裂解物中测量了尿卟啉原脱羧酶活性。在HEP患者中，酶活性为正常水平的5%，家族研究明确证实HEP患者为纯合子PCT病例。通过开发一种直接非竞争性酶免疫测定法（EIA）来测量免疫反应性尿卟啉原脱羧酶。对于12名家族性PCT患者，我们发现免疫反应性蛋白减少了51%，与催化活性降低48%的程度相同[交叉反应性免疫物质（CRIM）阴性]。HEP家族的儿童也为CRIM阴性，这与之前描述为CRIM阳性的另一个HEP家族形成对比；我们的数据支持家族性尿卟啉原脱羧酶缺乏存在异质性的假说。
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