Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA.
Vet J. 2013 Dec;198(3):720-2. doi: 10.1016/j.tvjl.2013.10.008. Epub 2013 Oct 10.
Erythrodontia is the hallmark of human congenital erythropoietic porphyria (CEP), but is also a major phenotypic feature of acute intermittent porphyria (AIP) in cats. In this study, detailed biochemical and molecular analyses were performed on two unrelated cats with autosomal dominant AIP that presented with erythrodontia, yellow-brown urine and mild changes in erythrocytes. The cats had elevated concentrations of urinary 5-aminolevulinic acid and porphobilinogen, and half normal erythrocytic hydroxymethylbilane synthase (HMBS) activity. Two novel HMBS mutations were detected; one cat had a deletion (c.107_110delACAG) and one cat had a splicing alteration (c.826-1G>A), both leading to premature stop codons and truncated proteins (p.D36Vfs 6 and p.L276Efs 6, respectively). These studies highlight the importance of appropriate biochemical and molecular genetic analyses for the accurate diagnoses of porphyrias in cats and extend the molecular genetic heterogeneity of feline AIP. Thus, although erythrodontia is a classic sign of congenital erythropoietic porphyria in human beings, cats with erythrodontia may have acute intermittent porphyria, a hepatic porphyria.
红细胞病是人类先天性红细胞生成性卟啉症（CEP）的标志，但也是猫急性间歇性卟啉症（AIP）的主要表型特征。在这项研究中，对两只具有常染色体显性遗传 AIP 的无亲缘关系的猫进行了详细的生化和分子分析，这两只猫表现出红细胞病、黄棕色尿液和红细胞轻度改变。这些猫的尿 5-氨基酮戊酸和卟胆原浓度升高，且红细胞羟甲基胆素合酶（HMBS）活性为正常的一半。检测到两种新的 HMBS 突变；一只猫有缺失（c.107_110delACAG），另一只猫有剪接改变（c.826-1G>A），这两种突变均导致提前出现终止密码子和截短蛋白（p.D36Vfs6 和 p.L276Efs6）。这些研究强调了适当的生化和分子遗传学分析对于猫卟啉症的准确诊断的重要性，并扩展了猫急性间歇性卟啉症的分子遗传异质性。因此，尽管红细胞病是人类先天性红细胞生成性卟啉症的典型标志，但具有红细胞病的猫可能患有急性间歇性卟啉症，即肝性卟啉症。
