Tavazzi Dario, Martinez di Montemuros Franco, Fargion Silvia, Fracanzani Anna Ludovica, Fiorelli Gemino, Cappellini Maria Domenica
Centro Anemie Congenite, IRCCS Ospedale Maggiore Policlinico, Padiglione Granelli, Dipartimento di Medicina Intema, Università degli Studi di Milano, Italy.
Cell Mol Biol (Noisy-le-grand). 2002 Feb;48(1):27-32.
Porphyria cutanea tarda (PCT) is a human metabolic disorder due to the acquired or genetic impairment of uroporphyrinogen decarboxylase (URO-D) activity, the fifth enzyme of the heme biosynthetic pathway. A classification of inherited and non-inherited forms is based on the enzyme activity levels in red blood cells (RBC). Clinical manifestations of PCT are often precipitated by triggering factors such as alcohol, drug abuse, estrogens, virus infections, hepatotoxic chemicals and hepatic siderosis. We measured URO-D activity in RBC from a large sample of Italian PCT patients in order to define the enzyme activity distribution and to attempt a correlation among activity, risk factors and clinical outcome. Three classes of patients with low, normal and over-normal URO-D activity were defined according to control values. Low URO-D levels were present in 25.8% of patients, suggesting the familial form of PCT (type II). In this group, the outcome of PCT seems to be less influenced by risk factors. Patients with over-normal URO-D activity in RBC deserve further investigation.
迟发性皮肤卟啉症（PCT）是一种人类代谢紊乱疾病，归因于血红素生物合成途径中第五种酶——尿卟啉原脱羧酶（URO-D）活性的后天性或遗传性损伤。根据红细胞（RBC）中的酶活性水平对遗传性和非遗传性形式进行分类。PCT的临床表现通常由触发因素引发，如酒精、药物滥用、雌激素、病毒感染、肝毒性化学物质和肝铁质沉着症。我们测量了大量意大利PCT患者红细胞中的URO-D活性，以确定酶活性分布，并尝试建立活性、危险因素和临床结果之间的相关性。根据对照值定义了三类URO-D活性低、正常和超正常的患者。25.8%的患者URO-D水平较低，提示为家族性PCT（II型）。在这组患者中，PCT的预后似乎受危险因素的影响较小。红细胞中URO-D活性超正常的患者值得进一步研究。
