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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 III: Medical Management01:30

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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 VI: Surgical Management01:25

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

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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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Urologic Endoscopic Procedure: Cystoscopic Examination01:28

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Meaning of Cystoscopic Examination:Cystoscopy is an essential diagnostic tool in urology that is used to assess the structure and function of the genitourinary system. It provides a direct view of the urethra, bladder, and, in some cases, the ureteral openings. This procedure helps detect structural abnormalities, infections, cancers, and blockages in the urinary tract. There are two types of cystoscopy:Flexible cystoscopy is commonly performed in outpatient settings due to its less invasive...
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Urinary Tract Calculi IV: Nutrition Therapy and Prevention01:27

Urinary Tract Calculi IV: Nutrition Therapy and Prevention

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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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Author Spotlight: Developing a Bedside Protocol for Kidney and Genitourinary Ultrasonography
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Cystine nephrolithiasis.

Hasan Fattah1, Yasmin Hambaroush1, David S Goldfarb1

  • 1Nephrology Section, New York Harbor VA Healthcare System, New York, NY, USA ; Nephrology Division, NYU Langone Medical Center, New York, NY, USA.

Translational Andrology and Urology
|November 11, 2014
PubMed
Summary
This summary is machine-generated.

Cystinuria, caused by mutations in SLC3A1 or SLC7A9 genes, leads to cystine kidney stones. This review covers genetics, management, and new cystine crystal inhibition studies.

Keywords:
CystinuriaD-penicillaminekidney stonestioproninurolithiasis

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Area of Science:

  • Nephrology
  • Genetics
  • Molecular Biology

Background:

  • Cystinuria is a genetic disorder characterized by the abnormal urinary excretion of cystine.
  • Mutations in the SLC3A1 and SLC7A9 genes impair the reabsorption of cystine in the proximal tubules.
  • This impairment leads to the formation of cystine stones and potential chronic kidney disease.

Purpose of the Study:

  • To provide a comprehensive review of cystinuria.
  • To discuss the genetics, pathophysiology, pathology, clinical manifestations, and management of the disease.
  • To highlight recent advancements in cystine crystal inhibition.

Main Methods:

  • Review of existing literature on cystinuria genetics and molecular mechanisms.
  • Analysis of clinical data regarding pathophysiology and manifestations.
  • Summary of current and emerging therapeutic strategies.

Main Results:

  • Identification of SLC3A1 and SLC7A9 as causative genes for cystinuria.
  • Understanding the role of the heterodimeric protein in cystine reabsorption.
  • Elucidation of disease mechanisms resulting from transport system dysfunction or mislocalization.

Conclusions:

  • Cystinuria management involves conservative therapies like increased fluid intake and dietary modifications.
  • Pharmacological treatments, including thiol drugs, are used for refractory cases.
  • Ongoing research focuses on novel methods for cystine crystal inhibition to improve patient outcomes.