Rare inherited kidney diseases: challenges, opportunities, and perspectives.
Rare inherited kidney diseases: challenges, opportunities, and perspectives.
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DOI：
10.1016/s0140-6736(14)60659-0
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发表时间：
2014-05-24
期刊：
影响因子：
168.9
通讯作者：
Schaefer, Franz
中科院分区：
文献类型：
--
作者：
Devuyst, Olivier;Knoers, Nine V. A. M.;Remuzzi, Giuseppe;Schaefer, Franz
至少 10% 的成人和几乎所有接受肾脏替代治疗的儿童都患有遗传性肾病。这些患者在疾病进展时很少死亡，并且由于器官替代疗法的进步可以存活多年。然而，这些疾病大大降低了他们的生活质量，并对医疗保健系统产生很大影响。由于肾脏调节重要的体内平衡过程，遗传性肾脏疾病会产生多系统并发症，这增加了罕见疾病的常见挑战。在这篇综述中，我们讨论了罕见遗传性肾脏疾病的性质、它们带来的挑战以及非常适合针对肾脏的技术进步带来的机遇。来自罕见疾病的机制见解与高血压、肾结石、心血管疾病和慢性肾病进展等常见疾病相关。
At least 10% of adults and nearly all children who receive renal-replacement therapy have an inherited kidney disease. These patients rarely die when their disease progresses and can remain alive for many years because of advances in organ-replacement therapy. However, these disorders substantially decrease their quality of life and have a large effect on health-care systems. Since the kidneys regulate essential homoeostatic processes, inherited kidney disorders have multisystem complications, which add to the usual challenges for rare disorders. In this review, we discuss the nature of rare inherited kidney diseases, the challenges they pose, and opportunities from technological advances, which are well suited to target the kidney. Mechanistic insights from rare disorders are relevant for common disorders such as hypertension, kidney stones, cardiovascular disease, and progression of chronic kidney disease.