Kidney Week 2025 Annual Meeting-Emerging Insights on the Evaluation of Kidney Stone Risk

Video Transcription

Video Summary

The session reviews emerging approaches to evaluating kidney stone risk, emphasizing when to suspect genetic disease, how urine testing guides care, and how environment and medications contribute.<br /><br />Dr. Felix Nauff highlights that monogenic causes are uncommon in unselected stone formers (~3%) but much more frequent in high-risk patients (early onset, recurrent stones, nephrocalcinosis, CKD), where genetic diagnoses may explain ~34%. He organizes monogenic disorders into calcium/phosphate disorders (including Dent disease and phosphate-wasting transporter defects), cystinuria, and oxalate-related disorders (primary hyperoxaluria). He stresses phenotype clues—early onset, family history, distinctive labs (e.g., low–molecular weight proteinuria in Dent disease; low phosphate/high calcitriol in phosphate wasting; very high oxalate for PH1). Cases illustrate that primary hyperoxaluria can present both early and late (oxalate nephropathy), and new therapies (siRNA, gene-editing approaches) make diagnosis clinically actionable. He also discusses investigation of SLC26A1 variants, suggesting a stronger sulfate/musculoskeletal phenotype than oxalate-driven stones.<br /><br />Dr. Alex Chang focuses on SLC34A1/SLC34A3 sodium-phosphate transporters. Biallelic variants cause hypophosphatemic rickets or infantile hypercalcemia syndromes; heterozygous variants modestly raise stone risk and may explain “missing heritability.” Biobank data show associations with nephrolithiasis but messy biochemical signals (often low-normal phosphate). Vitamin D supplementation may magnify stone risk in variant carriers. Phosphate supplementation can reduce hypercalciuria in selected cases.<br /><br />Dr. Megan Prochaska shows how 24-hour urine testing enables personalized prevention by identifying drivers (volume, calcium, oxalate, citrate, sodium, protein) and revealing hidden exposures (e.g., supplements raising oxalate). Serial urines demonstrate real-time physiology (thiazide-induced hypokalemia lowering citrate and increasing ammonium). Sulfate and ammonium patterns can hint at systemic issues (metabolic syndrome/CKD vs diarrhea). Urine plus serum labs can also prompt genetic evaluation (e.g., SLC34A3).<br /><br />Dr. Emmanuel Le Tavernier reviews iatrogenic/environmental causes: low volume, high sodium/protein, and oxalate-rich foods/supplements. Drug-containing stones are rare (~1%) but important (e.g., sulfonamides, atazanavir, triamterene, mesalazine metabolites), and crystalluria can cause AKI. Vitamins C and D can raise oxalate or calciuria, respectively. Emerging concern: glyoxylic-acid hair-straightening products causing oxalate nephropathy in humans and animal models.

Asset Subtitle

Moderator(s): Bethany Birkelo, Belbina Pereira

Presentation(s):

Manifestations Leading to AKI Dialysis Dependency - Javier Neyra
Effects of Dialysis-Dependent AKI on Cardiovascular Outcomes - Ian McCoy
Post-AKI Care: Patient and Population Health Perspectives - Anitha Vijayan
Halting Progression of CKD After AKI: Is There a Role for Novel Therapies? - Steven Menez

Meta Tag

Date 11/7/2025

Pathway 1 Bones, Stones, and Mineral Metabolism

Pathway 2 Genetic Diseases and Development

Session ID 510948

Keywords

kidney stone risk evaluation

monogenic nephrolithiasis

genetic testing indications

early-onset recurrent kidney stones

nephrocalcinosis and CKD

Dent disease low-molecular-weight proteinuria

cystinuria

primary hyperoxaluria (PH1)

oxalate nephropathy

SLC34A1 sodium-phosphate transporter

SLC34A3 sodium-phosphate transporter

hypophosphatemic rickets infantile hypercalcemia

24-hour urine metabolic evaluation

thiazide effects hypokalemia hypocitraturia

drug-induced kidney stones crystalluria (atazanavir triamterene sulfonamides)