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Tubular and genetic disorders associated with kidney stones

Mohebbi, N; Ferraro, PM; Gambaro, G; Unwin, R; (2017) Tubular and genetic disorders associated with kidney stones. Urolithiasis , 45 (1) pp. 127-137. 10.1007/s00240-016-0945-y. Green open access

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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.

Type: Article
Title: Tubular and genetic disorders associated with kidney stones
Location: Germany
Open access status: An open access version is available from UCL Discovery
DOI: 10.1007/s00240-016-0945-y
Publisher version: http://doi.org/10.1007/s00240-016-0945-y
Language: English
Additional information: Copyright © Springer-Verlag Berlin Heidelberg 2016. The final publication is available at Springer via http://dx.doi.org/10.1007/s00240-016-0945-y
Keywords: Mutation, Nephrocalcinosis, Nephrolithiasis, Urolithiasis
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
URI: https://discovery.ucl.ac.uk/id/eprint/1530692
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