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Related Concept Videos

Urinary Tract Calculi III: Medical Management01:30

Urinary Tract Calculi III: Medical Management

288
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)...
288
Urinary Tract Calculi IV: Nutrition Therapy and Prevention01:27

Urinary Tract Calculi IV: Nutrition Therapy and Prevention

456
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,...
456
Urinary Tract Calculi V: Nursing Management01:28

Urinary Tract Calculi V: Nursing Management

342
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...
342
Urinary Tract Calculi I: Introduction01:28

Urinary Tract Calculi I: Introduction

598
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...
598
Urinary Tract Calculi VI: Surgical Management01:25

Urinary Tract Calculi VI: Surgical Management

616
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...
616
Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations01:26

Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations

458
Renal calculi, commonly termed kidney stones, are crystalline solid masses that form in the kidneys but can occur at any point within the urinary system, encompassing the kidneys, ureters, bladder, and urethra.The pathophysiology of renal stones involves several key factors: supersaturation of the urine with stone-forming constituents, changes in urine pH, a decrease in urine volume, and the presence of substances that promote or inhibit stone formation.Supersaturation of Urine: This is the...
458

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Related Experiment Video

Updated: Feb 20, 2026

Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis
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Personalized Intervention in Monogenic Stone Formers.

Lucas J Policastro1, Subodh J Saggi2, David S Goldfarb3

  • 1Department of Medicine, SUNY Downstate Medical Center, Brooklyn, New York.

The Journal of Urology
|October 25, 2017
PubMed
Summary
This summary is machine-generated.

Genetic testing can improve kidney stone prevention by identifying monogenic causes. This review explores 27 genes linked to kidney stones, suggesting genetic screening for idiopathic cases may personalize treatment.

Keywords:
geneticshypercalciuriakidney calculinephrolithiasisprecision medicine

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Area of Science:

  • Nephrology
  • Genetics
  • Molecular Biology

Background:

  • Kidney stones (nephrolithiasis) are often polygenic, with family history typically not altering treatment.
  • Recent research suggests single gene mutations may cause a significant portion of kidney stones.
  • This challenges the traditional metabolically directed therapy for stone prevention.

Purpose of the Study:

  • To review current findings on monogenic kidney stone disease.
  • To provide a clinical reference for monogenic causes of nephrolithiasis.
  • To highlight the potential of genetic screening in managing kidney stone recurrence.

Main Methods:

  • Compiled a comprehensive list of genes associated with nephrolithiasis.
  • Conducted a systematic literature search on PubMed and Google Scholar for relevant studies.
  • Identified genes representing monogenic causes of kidney stones, excluding ALPL due to its minor role in hypophosphatasia.

Main Results:

  • Reviewed 27 genes associated with kidney stone formation.
  • Detailed findings on inheritance patterns, mutation prevalence, and specific therapies.
  • Highlighted the potential for novel mutations and heterozygous forms in the general stone-forming population.

Conclusions:

  • Genetic testing offers a significant opportunity to enhance care for pediatric and adult kidney stone patients.
  • Monogenic causes should be considered for cases of idiopathic nephrolithiasis.
  • Increased awareness and genetic testing can personalize stone prevention strategies.