Sarah Howles

Kidney stone disease: risk factors, pathophysiology and management - Nature Reviews Nephrology This Review discusses the pathophysiology of kidney stone formation and examines the contribution of urinary risk factors and genetic variants. The authors also consider current approaches to the mana...

Kidney stone disease: risk factors, pathophysiology and management go.nature.com/47hmWEe

@danfuster.bsky.social
@sarahhowles.bsky.social

No stone goes unturned in the search for risk-associated variants in kidney stone disease—

@celovegrove.bsky.social @sarahhowles.bsky.social & team identify three biologic pathways that underlie ~11-19% of common causes of stone formation: buff.ly/INjAjLy

Our latest with editorial. Genetic susceptibility to kidney stone disease: unveiling pathogenesis and potential therapeutic targets @jclinicalinvest @drsarahhowles
jci.org/articles/view/…
jci.org/articles/view/��� @celovegrove.bsky.social @ndsurgicalsci.bsky.social

Important work from Grace Wheeler, Victor Popoola, & @sarahhowles.bsky.social from @ox.ac.uk & @ndsurgicalsci.bsky.social in @collegeofsurgeons.bsky.social supported by @kidneyresearchuk.org, @wellcometrust.bsky.social, Medical Research Council, & @oxhealthbrc.bsky.social.

Plenty more work to do!

Research uncovers genetic changes linked to developing kidney stones - Kidney Research UK Researchers have discovered DNA changes that likely control people’s calcium and phosphate levels and cause kidney stones.

www.kidneyresearchuk.org/2025/07/01/r...
“By identifying 3 changes in 🧬 that ⬆️ the risk of kidney stones, it may be possible to use this info, alongside other risk factors, to provide personalised treatments for patients. ”

@kidneyresearchuk.org @sarahhowles.bsky.social @ndsurgicalsci.bsky.social

Rare disease gene association discovery in the 100,000 Genomes Project - Nature A rare variant burden analytical framework for Mendelian diseases was developed and applied to data from the 100,000 Genomes Project, identifying 69 probable new disease–gene associations.

www.nature.com/articles/s41...

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Empagliflozin in nondiabetic individuals with calcium and uric acid kidney stones: a randomized phase 2 trial - Nature Medicine As part of the SWEETSTONE trial, the authors report the ability of the sodium-glucose cotransporter 2 inhibitor empagliflozin to reduce the likelihood of kidney stone formation in individuals without ...

It’s now online! Published today at www.nature.com/articles/s41...

👍 sounds like we wont have to wait long to see the full results?

Or @danfuster.bsky.social?

Sorry should read ‘no’ potential benefit. What happened to the phosphate excretion?

This is all really interesting! Suggests to potential benefit in CaOx? But then why such big population effects? And caox in the EMPASTONE trial?

One of the underrated uses of plasma proteins is disease prediction. They predict most disease conditions surprisingly well, even better than demographics model. The plot compares AUC of plasma protein risk scores vs demographics in predicting disease endpoints in the UK Biobank.