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Related Concept Videos

Urinary Tract Calculi I: Introduction01:28

Urinary Tract Calculi I: Introduction

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

Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations

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

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

Urinary Tract Calculi IV: Nutrition Therapy and Prevention

516
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,...
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Disorders of the Urinary System01:20

Disorders of the Urinary System

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The urinary system is responsible for eliminating waste and excess fluids from the body. However, disorders of the urinary system can arise due to various reasons like infections, stress, age, congenital abnormalities, and lifestyle.
Urinary tract infections (UTIs) are one of the most common urinary system disorders. They are caused by bacteria that enter the urethra and can spread to the bladder resulting in cystitis. Pyelonephritis is the result of a UTI that has ascended to the level of the...
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Renal Corpuscle01:20

Renal Corpuscle

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The glomerulus and Bowman's capsule are two essential components of the nephron, which is the functional unit of the kidney. These microscopic structures play a critical role in the process of blood filtration to produce urine.
Glomerulus: Structure and Function
The glomerulus is a tiny, intricate network of capillaries located at the beginning of the nephron. It's enveloped by the Bowman's capsule and receives its blood supply from an afferent arteriole, which divides into numerous...
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Correction: SMART stone multidisciplinary team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway.

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Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis
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Genetic defects underlying renal stone disease.

Gill Rumsby1

  • 1Clinical Biochemistry, UCL Hospitals, 60 Whitfield St, London W1T 4EU, United Kingdom.

International Journal of Surgery (London, England)
|November 14, 2016
PubMed
Summary

Genetic factors are rare but critical causes of kidney stones. Understanding these genetic conditions, like adenine phosphoribosyl transferase (APRT) deficiency, is key for effective treatment and family risk assessment.

Keywords:
APRT deficiencyCystinuriaDistal renal tubular acidosisGeneticsHyperoxaluriaStones

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Area of Science:

  • Nephrology
  • Medical Genetics
  • Biochemistry

Background:

  • Renal stones are common, often linked to solubility issues in the urinary tract.
  • Primary genetic causes of renal stones are rare but require specific recognition and management.
  • Identifying genetic origins is crucial for targeted therapies and familial risk assessment.

Purpose of the Study:

  • To provide a biochemical overview of renal stone investigation.
  • To highlight challenges in diagnosing and managing renal stones.
  • To describe the genetic basis of various renal stone diseases.

Main Methods:

  • Biochemical analysis of renal stone formation.
  • Review of genetic disorders leading to renal stone disease.
  • Case examples of specific genetic conditions.

Main Results:

  • Genetic causes of renal stones stem from metabolic pathway derangements, insoluble product diversion, transport failures, and renal tubular acidosis.
  • Specific genetic disorders discussed include adenine phosphoribosyl transferase (APRT) deficiency, primary hyperoxaluria, cystinuria, and autosomal dominant distal renal tubular acidosis.

Conclusions:

  • Recognizing rare genetic causes of renal stones is vital for appropriate treatment and family counseling.
  • Biochemical investigation plays a key role in understanding the pathogenesis of renal stone disease.
  • Genetic renal stone diseases necessitate tailored management strategies.