European Society for Paediatric Nephrology/European Renal Association and European Dialysis and Transplant Association Registry, Department of Medical Informatics, Academic Medical Center, Amsterdam, The Netherlands.
Clin J Am Soc Nephrol. 2011 Oct;6(10):2485-91. doi: 10.2215/CJN.02000311. Epub 2011 Aug 25.
Nephropathic cystinosis (NC) is an autosomal recessive disorder occurring in one to two per 100,000 newborns. Because of the rarity of NC, long-term outcome data are scarce.
DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: 245 NC patients from 18 countries provided data to the ESPN/ERA-EDTA registry. We matched NC patients on renal replacement therapy (RRT) to non-NC children on RRT.
Between 1979 and 2008, mean age at the start of RRT among NC children increased by 0.15 year per calendar year (95% confidence interval, 0.10 to 0.21) from 8.8 to 12.7 years, whereas we did not observe this in non-NC children. Five-year survival after the start of RRT improved in NC patients from 86.1% (before 1990) to 100% (since 2000) as compared with the control population (89.6% and 94.0%). NC patients received a renal allograft more often (relative risk, 1.09; 95% confidence interval, 1.00 to 1.17) as compared with matched RRT children, and 5-year graft survival was better (94.0% versus 84.0%). NC dialysis patients were less often hypertensive than non-NC children matched for age, country, and dialysis modality (42.7% versus 51.7%) and had lower parathyroid hormone levels (median, 56 versus 140 pg/ml). Although height at start of RRT slightly improved during the past decade, children with NC remained significantly shorter than non-NC children at the start of RRT.
We demonstrated improved survival of the renal function as well as better patient and graft survival after the start of RRT in a large European cohort of NC patients over the last two decades.
肾源性家族性胱氨酸贮积症（NC）是一种常染色体隐性遗传病，每 10 万新生儿中约有 1 至 2 例发病。由于 NC 较为罕见，因此长期预后数据较为缺乏。
设计、地点、参与者和测量方法：来自 18 个国家的 245 例 NC 患者向 ESPN/ERA-EDTA 登记处提供了数据。我们将接受肾脏替代治疗（RRT）的 NC 患者与接受 RRT 的非 NC 儿童进行了匹配。
1979 年至 2008 年，NC 患儿开始接受 RRT 的平均年龄每年增加 0.15 岁（95%置信区间，0.10 至 0.21），从 8.8 岁增加到 12.7 岁，而非 NC 儿童的平均年龄未发生变化。与对照组（89.6%和 94.0%）相比，开始接受 RRT 治疗后，NC 患者的 5 年生存率从 86.1%（1990 年前）提高到 100%（2000 年后）。与匹配的接受 RRT 治疗的儿童相比，NC 患者接受肾移植的比例更高（相对风险，1.09；95%置信区间，1.00 至 1.17），5 年移植物存活率更高（94.0%对 84.0%）。与匹配的年龄、国家和透析方式的非 NC 儿童相比，NC 透析患者的高血压发生率较低（42.7%对 51.7%），甲状旁腺激素水平较低（中位数，56 对 140 pg/ml）。尽管过去十年中开始接受 RRT 的儿童的身高略有改善，但 NC 患儿开始接受 RRT 时的身高仍明显低于非 NC 患儿。
在过去的二十年中，我们在一个大型欧洲 NC 患者队列中证明了肾功能的存活率提高，以及开始接受 RRT 后的患者和移植物存活率提高。
