Genetics of kidney stone disease

SA Howles, RV Thakker - Nature Reviews Urology, 2020 - nature.com
Kidney stone disease (nephrolithiasis) is a common problem that can be associated with
alterations in urinary solute composition including hypercalciuria. Studies suggest that the …

Human kidney stones: a natural record of universal biomineralization

M Sivaguru, JJ Saw, EM Wilson, JC Lieske… - Nature Reviews …, 2021 - nature.com
GeoBioMed—a new transdisciplinary approach that integrates the fields of geology, biology
and medicine—reveals that kidney stones composed of calcium-rich minerals precipitate …

Obesity-related indices and its association with kidney stone disease: a cross-sectional and longitudinal cohort study

MR Lee, HL Ke, JC Huang, SP Huang, JH Geng - Urolithiasis, 2022 - Springer
Obesity increases the risk of several diseases, including kidney stone disease (KSD). The
study aimed to explore the relationship between KSD and various obesity-related indices. A …

Genetic variants of calcium and vitamin D metabolism in kidney stone disease

SA Howles, A Wiberg, M Goldsworthy… - Nature …, 2019 - nature.com
Kidney stone disease (nephrolithiasis) is a major clinical and economic health burden with a
heritability of~ 45–60%. We present genome-wide association studies in British and …

Animal models of naturally occurring stone disease

A Alford, E Furrow, M Borofsky, J Lulich - Nature Reviews Urology, 2020 - nature.com
The prevalence of urolithiasis in humans is increasing worldwide; however, non-surgical
treatment and prevention options remain limited despite decades of investigation. Most …

Genetics of kidney stone disease—polygenic meets monogenic

J Halbritter - Néphrologie & Thérapeutique, 2021 - Elsevier
Kidney stone disease comprising nephrolithiasis and nephrocalcinosis is a clinical
syndrome of increasing prevalence with remarkable heterogeneity. Stone composition, age …

Nephrolithiasis: a red flag for cardiovascular risk

A Gambaro, G Lombardi, C Caletti, FL Ribichini… - Journal of Clinical …, 2022 - mdpi.com
Epidemiological evidence shows that nephrolithiasis is associated with cardiovascular (CV)
morbidities. The association between nephrolithiasis and CV disease is not surprising …

Risk of metabolic syndrome in kidney stone formers: a comparative cohort study with a median follow-up of 19 years

RM Geraghty, P Cook, P Roderick… - Journal of Clinical …, 2021 - mdpi.com
Background: Kidney stone formers (SF) are more likely to develop diabetes mellitus (DM),
but there is no study examining risk of metabolic syndrome (MetS) in this population. We …

Identification of a novel uterine leiomyoma GWAS locus in a Japanese population

K Sakai, C Tanikawa, A Hirasawa, T Chiyoda… - Scientific reports, 2020 - nature.com
Uterine leiomyoma is one of the most common gynaecologic benign tumours, but its genetic
basis remains largely unknown. Six previous GWAS identified 33 genetic factors in total …

Role of claudins in idiopathic hypercalciuria and renal lithiasis

AL Negri, EE Del Valle - International Urology and Nephrology, 2022 - Springer
Paracellular transport in the kidney is mediated by a family of proteins located in the tight
junctions called claudins which confers its ionic selectivity. Claudin-2 is highly expressed in …