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以光毒性为主要表现的变异型卟啉病一例

Yuanxiang Hu,Yaohui Ma, Yanfang Zhu, Jiaoqian Bai,Ninglin Kang, Jie Li,Songyun Zhang

Zhonghua nei ke za zhi（2019）

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Abstract
患者产后2个月逐渐出现双手背散在水疱,光照后加重,避光后减轻,伴瘙痒,无疼痛.发病时尿色发红,常与病情严重程度一致,缓解期尿色正常.检查结果显示,尿胆色素原(PBG)试验阴性,尿曝光试验阳性,尿卟啉试验阳性.基因检测发现编码原卟啉原氧化酶(PPOX)基因发生突变(c.471G＞A),诊断为变异型卟啉病.
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