连续基因删除综合征TSC2/PKD1:一个病例系列
Eduardo de Oliveira Valle1, Mateus Coelho Guerreiro1, Jose Otto Reusing Junior2
1Division of Nephrology, School of Medicine, University of São Paulo, São Paulo, Brazil; Division of Molecular Medicine, School of Medicine, University of São Paulo, São Paulo, Brazil.
概括
TSC2/PKD1连续基因删除综合征 (CGS) 显示出可变的临床过程,一些患者比以前认为的晚些时候达到末期病 (ESKD). 这种遗传性疾病可以呈现出类似于严重自体主导多囊性病 (ADPKD) 的表型.
科学领域:
- 遗传学和罕见疾病.
- 科和病进展情况.
背景情况:
- TSC2/PKD1连续基因删除综合征 (CGS) 具有结核硬化综合体 (TSC) 和自身主导性多囊性病 (ADPKD) 的特征.
- 历史上,CGS与严重的表型有关,包括在30年内发病的儿童末期病 (ESKD).
- 最近的报道表明,CGS的临床过程更为可变,需要进一步的表征.
研究的目的:
- 描述TSC2/PKD1连续基因删除综合征 (CGS) 的临床谱和自然史.
- 研究CGS患者中脏存活率和ESKD进展的变异性.
- 为了比较CGS的表型与严重的自体主导多囊性病 (ADPKD).
主要方法:
- 采用了案例系列研究设计.
- 分析了来自两个CGS血统的11名患者和1名未受影响的个人.
- 临床数据和脏存活率被追溯评估.
主要成果:
- 患有CGS的患者表现出高度可变的存期,有些人在没有ESKD的情况下达到第四个十年,即使没有马赛克主义.
- 开始ESKD的中位数年龄为22.5岁,而没有发展ESKD的个体的中位数年龄为25.5岁.
- 在CGS患者中,ESKD发病的临床过程和年龄显示出显著的变异性,与严重的ADPKD表型重叠.
结论:
- 患有CGS的患者的临床过程比以前报告的更为可变,不管莫赛克主义如何,ESKD可能会晚些时候出现.
- 在CGS中,的表型可以从严重的进展到类似于严重ADPKD的过程.
- 应考虑在严重ADPKD缺乏TSC表现的患者和在TSC患者迅速进展的囊性病中使用CGS.
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