Progress in Understanding the Genetics of Calcium-Containing Nephrolithiasis.

ABSTRACT: 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.

SUBMITTER: Sayer JA 

PROVIDER: S-EPMC5328168 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature