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Lancet. 2014 May 24;383(9931):1844-59. doi: 10.1016/S0140-6736(14)60659-0.

Rare inherited kidney diseases: challenges, opportunities, and perspectives.

Author information

Division of Nephrology, Université catholique de Louvain, Brussels, Belgium; Institute of Physiology, Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland. Electronic address:
Department of Medical Genetics, Division of Biomedical Genetics, University Medical Centre Utrecht, Utrecht, Netherlands.
IRCCS-Istituto di Ricerche Farmacologiche Mario Negri, Centro Anna Maria Astori, Science and Technology Park Kilometro Rosso and Unit of Nephrology and Dialysis, Azienda Ospedaliera Papa Giovanni XXIII, Bergamo, Italy.
Pediatric Nephrology Division, Center for Pediatric and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany.


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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