迟发性皮肤卟啉症家族性的异质性
Heterogeneity of familial porphyria cutanea tarda.
作者信息
Roberts A G, Elder G H, Newcombe R G, Enriquez de Salamanca R, Munoz J J
机构信息
Department of Medical Biochemistry, University of Wales College of Medicine, Cardiff.
出版信息
J Med Genet. 1988 Oct;25(10):669-76. doi: 10.1136/jmg.25.10.669.
The concentration of immunoreactive uroporphyrinogen decarboxylase has been measured in erythrocytes from 17 patients with porphyria cutanea tarda (PCT) from 10 families, from 74 of their relatives, and from 47 control subjects. The 10 families were divided into two groups according to their erythrocyte enzyme concentrations. Group A contained four families in which at least two subjects had overt PCT. All members of these families, including seven patients with overt PCT, had normal erythrocyte uroporphyrinogen decarboxylase concentrations and activities. Apart from their family history, patients in group A were clinically and biochemically indistinguishable from cases of type I (sporadic) PCT. Group B contained six families with the only previously described form of familial PCT (type II PCT) in which decreased erythrocyte uroporphyrinogen decarboxylase segregates as an autosomal dominant trait. These findings show that familial PCT is heterogeneous and suggest that inheritance contributes to the pathogenesis of at least some cases of type I PCT.
已对来自10个家族的17例迟发性皮肤卟啉病（PCT）患者、他们的74名亲属以及47名对照者的红细胞中免疫反应性尿卟啉原脱羧酶的浓度进行了测定。根据红细胞酶浓度，将这10个家族分为两组。A组包含4个家族，其中至少有两名受试者患有显性PCT。这些家族的所有成员，包括7例显性PCT患者，红细胞尿卟啉原脱羧酶浓度和活性均正常。除家族史外，A组患者在临床和生化方面与I型（散发性）PCT病例无差异。B组包含6个家族，其具有先前唯一描述的家族性PCT形式（II型PCT），其中红细胞尿卟啉原脱羧酶降低作为常染色体显性性状分离。这些发现表明家族性PCT是异质性的，并提示遗传因素至少在某些I型PCT病例的发病机制中起作用。
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