常染色体显性遗传性多囊肾患者妊娠后影响及治疗研究进展

Research Progress in the Effect and Treatment of Pregnancy in Patients with Autosomal Dominant Polycystic Kidney Disease

常染色体显性遗传性多囊肾(ADPKD)是一种常见的肾脏遗传病,为单基因遗传,以双侧肾囊肿为特征,导致肾功能进行性下降。近年来基因检测技术和一些新药物的使用,使得ADPKD的管理取得了长足进步。但作为最常见的单基因遗传性肾病ADPKD患者的发病年龄与育龄期妇女高度重合,母亲和婴儿的妊娠结局与普通人群不同,妊娠并发症的长期后果在ADPKD中也很常见。本文将对ADPKD患者妊娠后的影响、妊娠期间的多方面治疗与管理进行综述。Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a prevalent genetic kidney disorder inherited through a single gene, characterized by bilateral renal cysts that lead to a progressive decline in renal function. Recent advancements in genetic testing technology and the introduction of novel medications have significantly improved the management of ADPKD. However, as the most prevalent monogenic inherited kidney disease, ADPKD patients often experience onset during childbearing age, leading to distinctive pregnancy outcomes for both mothers and infants compared to the general population. Additionally, long-term consequences of pregnancy complications are common in ADPKD. This review aims to outline the impact of pregnancy on ADPKD patients and explore multiple treatment and management strategies during pregnancy.