自体主导多囊性病
Emilie Cornec-Le Gall1, Ahsan Alam2, Ronald D Perrone3
1Service de Néphrologie, Hémodialyse et Transplantation Rénale, Centre Hospitalier Universitaire, Brest, France; UMR1078 Génétique, Génomique Fonctionnelle et Biotechnologies, INSERM, Université de Brest, Brest, France; Université de Bretagne Occidentale, Brest, France.
Lancet (London, England)
|March 2, 2019
概括
自体主导多囊性病 (ADPKD) 是一种常见的遗传性疾病,导致扩大和衰竭. 基因学,成像学和治疗学的进步现在为ADPKD患者提供了更好的诊断,预后和疾病修饰治疗方法.
科学领域:
- 肝脏病学
- 遗传学
- 内部医学
背景情况:
- 自体主导性多囊性病 (ADPKD) 是最常见的遗传性病,也是末期病的主要原因.
- ADPKD是一种全身性疾病,具有多种临床表现,包括缩的脏,高血压,肝囊,内动脉瘤和心脏膜疾病.
研究的目的:
- 审查最近理解和管理ADPKD的进展.
- 突出分子遗传学,先进的成像和新疗法对患者护理的影响.
主要方法:
- 临床研究的回顾,包括3期随机,安慰剂对照试验.
- 整合了分子遗传学和先进的成像技术的数据.
主要成果:
- 为ADPKD患者和家属提供了增强的诊断和预后工具.
- 一种改变疾病的药物现在已被批准用于高风险的ADPKD患者,改善了治疗策略.
结论:
- 最近的发展为ADPKD管理提供了基于证据的建议提供了坚实的基础.
- 实施这些技术可能会延缓功能衰竭,减轻症状,改善心血管状况,延长寿命.
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