Familial and sporadic porphyria cutanea tarda: clinical, biochemical and genetic features with emphasis on iron status.
Familial and sporadic porphyria cutanea tarda: clinical, biochemical and genetic features with emphasis on iron status.
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家族性和散发性迟发性皮肤卟啉症：临床、生化和遗传特征，重点关注铁状态。
DOI：
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发表时间：
2003
影响因子：
3.6
通讯作者：
F. Brandrup
中科院分区：
文献类型：
--
作者：
A. Bygum;L. Christiansen;N. E. Petersen;M. Hørder;K. Thomsen;F. Brandrup
迟发性皮肤卟啉病的表现反映了遗传和环境因素。位于染色体1p34上的尿卟啉原脱羧酶基因突变可以区分家族性皮肤迟发性卟啉病和散发病例。此外，血色素沉着症基因突变可能与病因学有关。本研究对53例无血缘关系的丹麦迟发性皮肤卟啉病患者，根据尿卟啉原脱羧酶和血色素沉着症基因突变以及与临床和生化数据相关的基因突变进行了分类。13例(25%)有家族性迟发性皮肤卟啉。这一结果表明DNA诊断在家族性病例识别中的优势，因为记忆数据令人怀疑，红细胞尿卟啉原脱羧酶活性测定不足以正确分类。迟发性皮肤卟啉病患者血色素沉着基因C282Y突变纯合子8例(15%)，杂合子8例。血色病相关突变的纯合子患者显示出过多的铁储存以及尿卟啉排泄水平增加的生化证据。这似乎证实了迟发性皮肤卟啉和血色素沉着症之间的关系。散发性和家族性迟发性皮肤卟啉病患者在发病年龄、临床严重程度、性别分布、肝功能检查和铁储存参数方面没有差异。然而，据报道，散发性患者每天饮酒和使用雌激素的频率更高。我们发现，在我们的研究中，女性的比例过高。
The manifestation of porphyria cutanea tarda reflects genetic and environmental factors. Mutations in the uroporphyrinogen decarboxylase gene, located at chromosome 1p34, discriminate familial porphyria cutanea tarda from sporadic cases. Furthermore, mutations in the haemochromatosis gene may be involved in the aetiology. In this study 53 unrelated Danish patients with porphyria cutanea tarda were classified according to uroporphyrinogen decarboxylase and haemochromatosis gene mutations and the genotype related to the clinical and biochemical data. Thirteen patients (25%) had familial porphyria cutanea tarda. The results signify the advantage of DNA diagnostics for identification of familial cases, as anamnestic data are doubtful and erythrocyte uroporphyrinogen decarboxylase activity measurements insufficient for correct classification. Eight patients with porphyria cutanea tarda (15%) were homozygous for the haemochromatosis gene C282Y mutation and 8 patients were heterozygous. Patients homozygous for the haemochromatosis related mutation showed biochemical evidence of excessive iron storage as well as increased urine porphyrin excretion levels. This seems to confirm a relationship between porphyria cutanea tarda and haemochromatosis. No differences were found between patients with sporadic and familial porphyria cutanea tarda regarding age of onset, clinical severity, sex distribution, liver function tests and iron storage parameters. However, daily alcohol intake and use of oestrogens were reported more frequently in the group of sporadic patients. It was found that women were over-represented in our study.
HLA 相关血色素沉着症的杂合性可能是与散发性迟发性皮肤卟啉症相关的肝铁质沉着症的原因。
影响因子：
29.4
作者：
Kushner,JP;Edwards,CQ;Dadone,MM;Skolnick,MH
通讯作者：
Skolnick,MH
散发性迟发性皮肤卟啉症中 HLA 连锁血色素沉着症等位基因。
影响因子：
29.4
作者：
Edwards,CQ;Griffen,LM;Goldgar,DE;Skolnick,MH;Kushner,JP
通讯作者：
Kushner,JP
迟发性皮肤卟啉症的红细胞尿卟啉原脱羧酶活性：对 40 名连续患者的研究。
DOI：
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发表时间：
1989
期刊：
The Journal of investigative dermatology
影响因子：
--
作者：
Held,JL;Sassa,S;Kappas,A;Harber,LC
通讯作者：
Harber,LC