在829名脏移植接受者中查与法布里病相关的突变
Marina Kljajic1, Armin Atic1, Ivan Pecin1,2
1Department of Internal Medicine, University Hospital Centre Zagreb, 10000 Zagreb, Croatia.
Journal of clinical medicine
|December 17, 2024
概括
在3名男性脏移植接受者中发现了法布里病突变. 皮质类固醇剂量与α-galactosidase A活性和lys-Gb3水平相关,强调了慢性病患者基因检测的重要性.
科学领域:
- 遗传学 遗传学 是一个
- 腎臟病學 (nephrology) 是一種醫學專業.
- 生物化学 生物化学
背景情况:
- 法布里病 (FD) 是一种由GLA基因变异引起的遗传溶酶体储存障碍,导致全球基胺 (Gb3) 积累和多器官功能障碍.
- 接受脏移植的人可能患有未被诊断的FD,需要进行遗传查.
- 了解FD对移植结果的影响至关重要.
研究的目的:
- 在移植接受者中识别与法布里病相关的突变.
- 探索临床因素 (年龄,透析年龄,eGFR,蛋白尿,皮质类固醇剂量) 与接受移植的FD患者的酶/生物标志物水平之间的相关性.
主要方法:
- 在476名脏移植受体 (334名女性,142名男性) 中,使用下一代测序对GLA基因进行基因分析.
- 分析的重点是女性患者和男性患者的阿尔法-银酸酶A活性降低.
- 皮尔森相关系数评估了临床因素和α-银酸酶A活性/lysogb3水平之间的关系.
主要成果:
- 三名男性患者 (0.4%) 被诊断出患有半形的法布里病突变:c.427G>A p. ((Ala143Thr),c.1181T>C p. ((Leu394Pro) 和c.352C>T p. ((Arg118Cys).
- 阿尔法-银酸酶A活性与皮质类固醇剂量呈正相关性.
- 莱索-Gb3水平与皮质类固醇剂量呈负相关性.
结论:
- 包括移植受体在内的慢性病患者对法布里病的基因检测对于疾病意识和管理至关重要.
- 需要进行进一步的研究,以阐明影响该群体α-galactosidase A和lys-Gb3水平的因素.
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