迟发性皮肤卟啉症患者的红细胞尿卟啉原脱羧酶活性：40例连续患者的研究

Erythrocyte uroporphyrinogen decarboxylase activity in porphyria cutanea tarda: a study of 40 consecutive patients.

作者信息

Held J L, Sassa S, Kappas A, Harber L C

机构信息

Department of Dermatology, Columbia-Presbyterian Medical Center, New York, NY 10032.

出版信息

J Invest Dermatol. 1989 Sep;93(3):332-4.

PMID:2768832

Abstract

We measured uroporphyrinogen decarboxylase (UROD) activity in erythrocyte lysates obtained from 40 consecutive patients with porphyria cutanea tarda (PCT) without selection for family history. Enzyme determinations indicated that 28% of the patients had abnormally decreased UROD activity in erythrocytes; this finding did not always correlate with family history. Two siblings with PCT and normal erythrocytic, but abnormally decreased hepatic UROD activities, were encountered. This finding suggests that familial PCT may occur not only with decreased erythrocyte UROD activity, but also with a normal UROD activity in erythrocytes.

摘要

我们检测了40例连续性迟发性皮肤卟啉病（PCT）患者红细胞裂解液中的尿卟啉原脱羧酶（UROD）活性，这些患者未根据家族史进行筛选。酶活性测定表明，28%的患者红细胞中UROD活性异常降低；这一发现并不总是与家族史相关。我们遇到了两名患有PCT的兄弟姐妹，他们的红细胞UROD活性正常，但肝脏UROD活性异常降低。这一发现表明，家族性PCT不仅可能伴有红细胞UROD活性降低，也可能伴有红细胞UROD活性正常的情况。