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新型UROD突变致使皮性迟,类型2:一个病例报告

Stephen Soufleris¹, Michelle Moore¹, John D Phillips²

¹Division of Gastroenterology and Hepatology, Department of Medicine, Wake Forest University School of Medicine/Atrium Health Wake Forest Baptist Medical Center, Winston-Salem, NC, USA.

AME case reports

|August 2, 2024

概括

皮质晚症 (PCT) 可能源于尿素氨基酸脱酶 (UROD) 的获得性或遗传性缺陷. 在PCT患者中发现了一种新的致病性UROD突变,c.224 G>C; p.Arg 75 Pro,该突变使酶活性降低了50%.

科学领域:

生物化学生物化学
遗传学是一个遗传学.
皮肤病学皮肤病学

背景情况:

皮质晚期 (PCT) 经常与获得的尿素氨基酸脱氧化酶 (UROD) 缺陷有关,风险因素包括铁过载,C型肝炎,酒精,烟草和雌激素.
大约25%的PCT病例 (类型2) 涉及所有细胞类型中存在的遗传部分UROD缺陷.

研究的目的:

报告与皮病相关的UROD基因的新型突变.
为了研究这种新发现的突变对UROD酶活性的功能影响.

主要方法:

进行了基因分析,以确定UROD基因中的突变.
进行了酶定量测试,以测量红细胞中的UROD活性.

主要成果:

在PCT患者的UROD基因中发现了一种新型突变,c.224 G>C;p.Arg 75 Pro.
红细胞UROD活性在患者中减少了50%,表明显著的功能障碍.
预计鉴定出的突变会对UROD蛋白质的结构和功能产生重大有害影响.

结论:

新的UROD突变c.224 G>C; p.Arg 75 Pro是致病的,有助于PCT的发展.
这一发现扩大了已知与Porphyria cutanea tarda相关的UROD突变的范围.

关键词:

皮肤性形病.案例报告案例报告这里是他的家园.铁是铁,铁是铁,铁是铁.尿素氨基酸脱碳酶 (UROD) 是一种

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