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New treatment paradigms for ADPKD: moving towards precision medicine
Nature Reviews Nephrology ( IF 41.5 ) Pub Date : 2017-10-09 , DOI: 10.1038/nrneph.2017.127
Matthew B. Lanktree , Arlene B. Chapman

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.



中文翻译:

ADPKD的新治疗范例:向精密医学迈进

常染色体显性遗传性多囊肾病(ADPKD)的自然病史的特征是囊肿发展速度和总肾脏体积(TKV)增加,肾脏功能下降和终末期肾病(ESRD)发病年龄的变化,以及肾脏和肾外表现的可变表现。提出了精确医学来通过根据每个个体的具体遗传背景,病理生理,疾病负担,预后和状况来定制治疗,从而改善患者的预后。由于遗传学,影像学,生物标志物的发展和治疗方法的进步,这种管理ADPKD患者的方法已接近临床实施。在这篇评论中,我们讨论了用于治疗高血压和蛋白尿的药物和非药物干预措施,以及在ESRD发生之前减慢ADPKD患者的囊肿生长速度。我们为肾脏并发症的管理提供建议,包括囊肿感染,肾结石,血尿和慢性疼痛。早期无症状的ADPKD患者的早期治疗会带来治疗负担,但会减慢囊肿的生长并延迟随后的肾功能丧失,从而最终延迟对肾脏替代疗法的需求,并对患者的生活质量产生积极影响。

更新日期:2017-10-11
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