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Progress in Understanding the Genetics of Calcium-Containing Nephrolithiasis

Lookup NU author(s): Professor John SayerORCiD


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Copyright © 2017 by the American Society of Nephrology. Renal stone disease is a frequent condition, causing a huge burden on health care systems globally. Calcium-based calculi account for around 75% of renal stone disease and the incidence of these calculi is increasing, suggesting environmental and dietary factors are acting upon a preexisting genetic background. The familial nature and significant heritability of stone disease is known, and recent genetic studies have successfully identified genes that may be involved in renal stone formation. The detection of monogenic causes of renal stone disease has been made more feasible by the use of high-throughput sequencing technologies and has also facilitated the discovery of novel monogenic causes of stone disease. However, the majority of calcium stone formers remain of undetermined genotype. Genome-wide association studies and candidate gene studies implicate a series of genes involved in renal tubular handling of lithogenic substrates, such as calcium, oxalate, and phosphate, and of inhibitors of crystallization, such as citrate and magnesium. Additionally, expression profiling of renal tissues from stone formers provides a novel way to explore disease pathways. New animal models to explore these recently-identified mechanisms and therapeutic interventions are being tested, which hopefully will provide translational insights to stop the growing incidence of nephrolithiasis.

Publication metadata

Author(s): Sayer JA

Publication type: Review

Publication status: Published

Journal: Journal of the American Society of Nephrology : JASN

Year: 2017

Volume: 28

Issue: 3

Pages: 748-759

Print publication date: 01/03/2017

Online publication date: 08/12/2016

Acceptance date: 02/04/2016

ISSN (print): 1046-6673

ISSN (electronic): 1533-3450


DOI: 10.1681/ASN.2016050576

PubMed id: 27932479