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Related Concept Videos

Urinary Tract Calculi I: Introduction01:28

Urinary Tract Calculi I: Introduction

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

Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations

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...
Urinary Tract Calculi III: Medical Management01:30

Urinary Tract Calculi III: Medical Management

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

Urinary Tract Calculi IV: Nutrition Therapy and Prevention

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

Urinary Tract Calculi V: Nursing Management

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...
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The endocrine system produces and secretes hormones, which interact with the skeletal system. These hormones control bone growth, maintain bone once it is formed, and remodel it.
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Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis
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Genetics and calcium nephrolithiasis.

Giuseppe Vezzoli1, Annalisa Terranegra, Teresa Arcidiacono

  • 1Nephrology and Dialysis Unit, San Raffaele Scientific Institute, via Olgettina 60, Milan, Italy. vezzoli.giuseppe@hsr.it

Kidney International
|October 22, 2010
PubMed
Summary
This summary is machine-generated.

Genetic factors predispose individuals to calcium nephrolithiasis, a common kidney stone disorder. Key genes like CASR, VDR, and CLDN14 are implicated, with specific variants linked to different patient phenotypes.

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Published on: February 3, 2012

Area of Science:

  • Nephrology
  • Urology
  • Genetics
  • Molecular Biology

Background:

  • Calcium nephrolithiasis is a prevalent uronephrologic disorder in Western countries.
  • Family and twin studies indicate a significant genetic predisposition to calcium stone formation.
  • Previous research implicated candidate genes such as calcium-sensing receptor (CASR), vitamin D receptor (VDR), and osteopontin (OPN) in stone development.

Purpose of the Study:

  • To explore the genetic underpinnings of calcium nephrolithiasis.
  • To investigate the association between specific gene polymorphisms and clinical phenotypes in stone formers.
  • To identify potential major genes involved in the pathogenesis of kidney stone disease.

Main Methods:

  • Review of family-based and case-control studies on single-candidate genes.
  • Analysis of findings from the sole high-throughput genome-wide association study identifying claudin 14 (CLDN14).
  • Correlation of specific gene associations with distinct patient phenotypes (e.g., normocitraturic, hypocitraturic, hypercalciuric).

Main Results:

  • Polymorphisms in CASR, VDR, and OPN genes are suggested to be involved in calcium nephrolithiasis.
  • The CLDN14 gene was identified as a potential major gene for nephrolithiasis via genome-wide association studies.
  • Specific gene associations were observed: CASR with normocitraturia, VDR with hypocitraturia and severe clinical course, and CLDN14 with hypercalciuria.

Conclusions:

  • Alterations in the expression of implicated genes may contribute to stone formation in susceptible individuals.
  • Understanding the pathogenetic role of these genes requires further investigation.
  • Advanced technological skills, thorough clinical examination, and detailed phenotyping are crucial for elucidating the genetic basis of nephrolithiasis.