Related Experiment Video
Updated: Mar 15, 2026
07:45
Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis
Published on: February 9, 2021
4.1K
Genetic testing and personalized treatment for kidney stone formers
Robert Geraghty1,2,3, Sarah Howles4,5, John Sayer2,6,7
1Department of Urology, The Newcastle upon Tyne NHS Foundation Trust.
Current Opinion in Urology
|March 14, 2026
Summary
Genetic testing for inherited kidney stone disease (KSD) is beneficial for selected patients with strong family histories or recurrent stones. Further research is needed to define its role in broader populations and for personalized management.
Area of Science:
- Genetics
- Nephrology
- Urology
Background:
- Kidney stone disease (KSD) has a significant heritable component.
- Genetic testing is increasingly relevant for KSD management.
- Current guidelines for genetic testing in KSD are unclear.
Purpose of the Study:
- To review existing evidence on genetic testing for KSD.
- To explore future directions for genetic testing in KSD.
- To clarify who should be offered genetic testing and its scope.
Main Methods:
- Literature review of existing evidence.
- Analysis of diagnostic rates in selected cohorts.
- Evaluation of the evolving understanding of genetic variants.
Main Results:
- Genetic testing in highly selected cohorts yields high diagnostic rates for monogenic KSD.
- Diagnoses facilitate genetic counseling, familial testing, and targeted therapies.
- The utility of polygenic risk scores and sequencing in unselected groups is uncertain.
Conclusions:
- Genetic testing for monogenic KSD is recommended for individuals with a strong family history and recurrent stones.
- Large-scale studies are needed to establish optimal patient selection criteria.
- Further research should define the role of genetic testing in risk prediction and personalized KSD management.
More Related Videos
Related Concept Videos
01:30Urinary Tract Calculi III: Medical Management
308
The diagnosis of renal calculi involves several imaging techniques, including non-contrast CT scans and ultrasound. These methods help visualize kidney stones, assess their size and location, and detect possible obstructions. Additionally, Measuring urine pH is useful for diagnosing specific stone types, such as struvite (alkaline pH) and uric acid stones (acidic pH). Cystine stones are primarily linked to cystinuria, a genetic condition. A urinalysis helps detect blood in the urine (hematuria)...
308
01:27Urinary Tract Calculi IV: Nutrition Therapy and Prevention
521
Management of renal calculi focuses on effective strategies like tailored nutrition and hydration therapy. Adjusting diet and fluid intake reduces stone formation and recurrence, making these interventions simple yet powerful in kidney stone prevention and management.Understanding Kidney StonesKidney stones form when calcium, oxalate, uric acid, and cystine concentrate and crystallize in urine. Factors contributing to their formation include genetic predisposition, certain medical conditions,...
521
01:25Urinary Tract Calculi VI: Surgical Management
736
Procedures for Kidney StonesMedical intervention is necessary when kidney stones or renal calculi are too large to pass spontaneously (typically greater than 5 millimeters) when stones are accompanied by symptomatic infection (such as fever or pyelonephritis), when they impair kidney function, or when they cause persistent symptoms like severe pain, nausea, or urinary retention. Additionally, patients with only one kidney or those who cannot be treated with medical management also require...
736
01:28Chronic Kidney Disease III: Interprofessional Care
578
Chronic kidney disease (CKD) requires collaborative and comprehensive management. CKD progresses through stages and can lead to end-stage kidney disease (ESKD) if untreated. Interprofessional collaboration and patient education are crucial, enabling patients to manage their health and improve their quality of life.Diagnostic approach for chronic kidney diseaseThe diagnosis of CKD primarily focuses on the glomerular filtration rate (GFR), which assesses kidney function by measuring how well...
578
01:28Urinary Tract Calculi I: Introduction
703
Renal calculi, or kidney stones, are solid deposits of minerals and salts formed inside the kidneys. In medical terminology, "calculus" refers to the stone itself, while "lithiasis" describes the process of stone formation. Depending on their location within the urinary system, these stones may be classified as either urolithiasis, when situated within the urinary tract, or nephrolithiasis, when located within the kidneys. Each term signifies the specific impact of the stone.Predisposition...
703
01:28Urinary Tract Calculi V: Nursing Management
393
AssessmentSubjective Data: Obtain a detailed health history, including any recent or chronic urinary tract infections, periods of immobilization, previous episodes of renal calculi, and medical conditions such as gout, benign prostatic hyperplasia, or hyperparathyroidism. Review the medication history for drugs that may influence stone formation, including allopurinol, analgesics, loop diuretics, or thiazide diuretics. Document the use of long-term indwelling catheters and any past surgical...
393