This concise review summarizes our current understanding and the recent developments in genetics and related renal tubular disorders that have been linked with, or have been shown to be causal in, renal stone disease. The aim is to provide a readily accessible quick and easy update for urologists, nephrologists and endocrine or metabolic physicians whose practice involves the diagnosis and management of nephrolithiasis. An important message is to always consider a seemingly rare, and usually genetic, cause of kidney stones, since some of these are emerging as more common than originally thought, especially in adult clinical practice in which a family history of stones is a common finding.
Urolithiasis. 2016 Jan 28 [Epub ahead of print]
Nilufar Mohebbi, Pietro Manuel Ferraro, Giovanni Gambaro, Robert Unwin
Division of Nephrology, University Hospital Zurich, Rämistrasse 100, 8091, Zurich, Switzerland. ., Nephrology Division, Institute of Internal Medicine, Catholic University, Rome, Italy., Centre for Nephrology, University College London, London, UK.