title: Tubular and genetic disorders associated with kidney stones.
abstract: 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.
authors.affiliation: Division of Nephrology, University Hospital Zurich, Rämistrasse 100, 8091, Zurich, Switzerland. nilufar.mohebbi@usz.ch.
authors.forename: Nilufar
authors.identifier: http://orcid.org/0000-0002-8229-9733
authors.initials: N
authors.lastname: Mohebbi
authors.affiliation: Nephrology Division, Institute of Internal Medicine, Catholic University, Rome, Italy.
authors.forename: Pietro Manuel
authors.initials: PM
authors.lastname: Ferraro
authors.affiliation: Nephrology Division, Institute of Internal Medicine, Catholic University, Rome, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Gambaro
authors.affiliation: Centre for Nephrology, University College London, London, UK.
authors.forename: Robert
authors.initials: R
authors.lastname: Unwin
mesh_terms: D006801:Humans; D007669:Kidney Calculi / Q000209:etiology* / Q000235:genetics; D007674:Kidney Diseases / Q000150:complications; D007684:Kidney Tubules; D009154:Mutation
keywords: Mutation; Nephrocalcinosis; Nephrolithiasis; Urolithiasis