本文由小咖机器人翻译整理

期刊来源：Lancet

原文链接：https://doi.org/10.1016/S0140-6736(23)02843-X

摘要内容如下：

背景

罕见肾脏疾病患者占慢性肾脏疾病患者的5-10%，但在接受肾脏替代治疗的患者中占25%以上。国家罕见肾脏疾病登记处（RADAR）收集了患有这些疾病的患者的纵向数据，我们用这些数据来研究疾病进展以及死亡和肾衰竭的结果。

方法

从英国108家肾脏护理机构招募了患有28种罕见肾脏疾病的0-96岁人群。主要结果是罕见肾脏疾病患者的死亡率和肾衰竭的累积发生率，计算并与未经选择的慢性肾脏疾病患者进行比较。累积发病率和Kaplan-Meier生存估计计算以下结果：肾衰竭的中位年龄；中位死亡年龄；从开始透析到死亡的时间；以及从诊断到估计的肾小球滤过率（EGFR）阈值的时间，允许计算从最后一次EGFR为75 mL/min/1.73 m2或以上到第一次EGFR小于30 mL/min/1.73 m2的时间（治疗试验窗）。

调查结果

在2010年1月18日至2022年7月25日期间，雷达招募了27285名参与者。诊断后中位随访时间为9.6年（IQR 5.9-16.7）。RADAR参与者的5年肾衰竭累积发病率显著高于281万英国全因慢性肾病患者（28%比1%；P<0.0001），但生存率较高（标准化死亡率0.42[95%CI 0.32~0.52]；P<0.0001）。肾衰竭时的中位年龄、死亡时的中位年龄、从开始透析到死亡的时间、从诊断到EGFR阈值的时间以及治疗试验窗口期在罕见病之间均存在显著差异。

解释

罕见肾脏疾病患者与普通慢性肾脏疾病患者不同：与其他3-5期慢性肾脏疾病患者相比，罕见肾脏疾病患者的5年肾衰竭发生率较高，但生存率较高，因此在需要肾脏替代治疗的患者队列中比例过高。解决罕见肾脏疾病患者未满足的治疗需求可能对长期肾脏替代治疗需求产生巨大的有益影响。

英文原文如下：

Abstracts

BACKGROUND  Individuals with rare kidney diseases account for 5-10% of people with chronic kidney disease, but constitute more than 25% of patients receiving kidney replacement therapy. The National Registry of Rare Kidney Diseases (RaDaR) gathers longitudinal data from patients with these conditions, which we used to study disease progression and outcomes of death and kidney failure.

METHODS  People aged 0-96 years living with 28 types of rare kidney diseases were recruited from 108 UK renal care facilities. The primary outcomes were cumulative incidence of mortality and kidney failure in individuals with rare kidney diseases, which were calculated and compared with that of unselected patients with chronic kidney disease. Cumulative incidence and Kaplan-Meier survival estimates were calculated for the following outcomes: median age at kidney failure; median age at death; time from start of dialysis to death; and time from diagnosis to estimated glomerular filtration rate (eGFR) thresholds, allowing calculation of time from last eGFR of 75 mL/min per 1·73 m2 or more to first eGFR of less than 30 mL/min per 1·73 m2 (the therapeutic trial window).

FINDINGS  Between Jan 18, 2010, and July 25, 2022, 27 285 participants were recruited to RaDaR. Median follow-up time from diagnosis was 9·6 years (IQR 5·9-16·7). RaDaR participants had significantly higher 5-year cumulative incidence of kidney failure than 2·81 million UK patients with all-cause chronic kidney disease (28% vs 1%; p<0·0001), but better survival rates (standardised mortality ratio 0·42 [95% CI 0·32-0·52]; p<0·0001). Median age at kidney failure, median age at death, time from start of dialysis to death, time from diagnosis to eGFR thresholds, and therapeutic trial window all varied substantially between rare diseases.

INTERPRETATION  Patients with rare kidney diseases differ from the general population of individuals with chronic kidney disease: they have higher 5-year rates of kidney failure but higher survival than other patients with chronic kidney disease stages 3-5, and so are over-represented in the cohort of patients requiring kidney replacement therapy. Addressing unmet therapeutic need for patients with rare kidney diseases could have a large beneficial effect on long-term kidney replacement therapy demand.

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