Rare inherited kidney diseases: challenges, opportunities, and perspectives.
(2014) The Lancet — Vol. 383, n° 9931, p. 1844-1859 (2014)
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- 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.
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Devuyst, O., Knoers, N. V. A. M., Remuzzi, G., & Schaefer, F. (2014). Rare inherited kidney diseases: challenges, opportunities, and perspectives. The Lancet, 383(9931), 1844-1859. https://doi.org/10.1016/S0140-6736(14)60659-0 (Original work published 2014)