Assessing Risk of Rapid Progression in Autosomal Dominant Polycystic Kidney Disease and Special Considerations for Disease-Modifying Therapy
Assessing Risk of Rapid Progression in Autosomal Dominant Polycystic Kidney Disease and Special Considerations for Disease-Modifying Therapy
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DOI：
10.1053/j.ajkd.2020.12.020
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发表时间：
2021-07-21
影响因子：
13.2
通讯作者：
Torres, Vicente E.
中科院分区：
文献类型：
--
作者：
Chebib, Fouad T.;Torres, Vicente E.
常染色体显性遗传性多囊肾病（ADPKD）是最常见的遗传性肾衰竭原因，占病例的5%-10%。预测哪些ADPKD患者将迅速进展为肾衰竭，对于评估任何干预措施的风险-获益比以及考虑早期启动长期肾脏保护措施至关重要，这些措施将最大限度地提高减缓疾病进展的累积获益。需要替代预后生物标志物来预测未来肾功能的下降。临床、遗传、环境、表观遗传和放射学因素已被研究作为ADPKD进展为肾衰竭的预测因素。这些预后因素的复杂相互作用决定了肾囊肿的数量及其生长速度，从而影响肾脏总体积（TKV）。以马约影像学分类为代表的经皮肾镜校正的TKV估计了每个患者独特的肾脏生长速率，并提供了迄今为止临床上可用的最个性化的方法。托伐普坦已被批准用于减缓具有快速进展性疾病风险的患者的疾病进展。其他几种改善疾病的治疗方法正在临床试验中进行研究。具有快速进展风险的患者的选择标准在各国之间差异很大，并且基于年龄、基线肾小球滤过率（GFR）、GFR斜率、基线TKV和TKV生长率的组合。本综述详细介绍了评估ADPKD疾病进展风险的方法，并确定了哪些患者将受益于疾病修饰剂的长期治疗。
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of kidney failure, accounting for 5%-10% of cases. Predicting which patients with ADPKD will progress rapidly to kidney failure is critical to assess the risk-benefit ratio of any intervention and to consider early initiation of long-term kidney protective measures that will maximize the cumulative benefit of slowing disease progression. Surrogate prognostic biomarkers are required to predict future decline in kidney function. Clinical, genetic, environmental, epigenetic, and radiologic factors have been studied as predictors of progression to kidney failure in ADPKD. A complex interaction of these prognostic factors determines the number of kidney cysts and their growth rates, which affect total kidney volume (TKV). Age-adjusted TKV, represented by the Mayo imaging classification, estimates each patient's unique rate of kidney growth and provides the most individualized approach available clinically so far. Tolvaptan has been approved to slow disease progression in patients at risk of rapidly progressive disease. Several other disease-modifying treatments are being studied in clinical trials. Selection criteria for patients at risk of rapid progression vary widely among countries and are based on a combination of age, baseline glomerular filtration rate (GFR), GFR slope, baseline TKV, and TKV rate of growth. This review details the approach in assessing the risk of disease progression in ADPKD and identifying patients who would benefit from long-term therapy with disease-modifying agents.