Rare inherited kidney diseases: challenges, opportunities, and perspectives

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• 作者：Prof Olivier Devuyst ; MD^a ; ^b ; ^{olivier.devuyst@uzh.ch" class="auth_mail} ; Prof Nine V A M Knoers ; MD^c ; Prof Giuseppe Remuzzi ; MD^d ; Prof Franz Schaefer ; MD^e ; for the Board of the Working Group for Inherited Kidney Diseases of the European Renal Association ; European Dialysis ; Transplant Association
• 刊名：The Lancet
• 出版年：24-30 May 2014
• 年：2014
• 卷：383
• 期：9931
• 页码：1844-1859
• 全文大小：1533 K

文摘

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.