Nephrology Division, Department of Medicine, McMaster University, St Joseph's Healthcare Hamilton, 50 Charlton Avenue E, Hamilton, Ontario L8N 4A6, Canada.
Department of Medicine, Section of Nephrology, University of Chicago, 5841 S Maryland Avenue, W503, Chicago, Illinois 60637, USA.
Nat Rev Nephrol. 2017 Dec;13(12):750-768. doi: 10.1038/nrneph.2017.127. Epub 2017 Oct 9.
The natural history of autosomal dominant polycystic kidney disease (ADPKD) is characterized by a variable rate of cyst development and increase in total kidney volume (TKV), variable kidney function decline and age of onset of end-stage renal disease (ESRD), and variable presentation of renal and extrarenal manifestations. Precision medicine is proposed to improve patient outcomes by tailoring therapy to the specific genetic background, pathophysiology, disease burden, prognosis and status of each individual. This approach to the management of patients with ADPKD is nearing clinical implementation owing to advances in genetics, imaging, biomarker development and therapeutics. In this Review, we discuss pharmacological and non-pharmacological interventions for the treatment of hypertension and proteinuria, and for slowing the rate of cyst growth in patients with ADPKD before the development of ESRD. We provide recommendations for the management of renal complications, including cyst infection, nephrolithiasis, haematuria and chronic pain. The early treatment of patients with ADPKD who are largely asymptomatic is associated with a therapeutic burden but slows cyst growth and delays subsequent loss of kidney function, which ultimately delays the need for renal replacement therapy and has a positive effect on the quality of life of patients.
常染色体显性遗传多囊肾病 (ADPKD) 的自然病程以囊肿形成速度和总肾体积 (TKV) 增加的可变性、肾功能逐渐下降和终末期肾病 (ESRD) 的发病年龄、肾脏和肾外表现的可变性为特征。精准医学通过针对每个个体的特定遗传背景、病理生理学、疾病负担、预后和状态来调整治疗方法，从而提高患者的治疗效果。由于遗传学、影像学、生物标志物开发和治疗方法的进步，这种针对 ADPKD 患者的管理方法已接近临床应用。在本文综述中，我们讨论了治疗 ADPKD 患者高血压和蛋白尿、减缓 ESRD 发生前囊肿生长速度的药物和非药物干预措施。我们还为肾并发症的管理提供了建议，包括囊肿感染、肾结石、血尿和慢性疼痛。对大多数无症状的 ADPKD 患者进行早期治疗会带来治疗负担，但可以减缓囊肿生长速度，延缓随后的肾功能丧失，从而延迟需要肾脏替代治疗的时间，并对患者的生活质量产生积极影响。
