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Related Concept Videos

Imaging Studies II: Ultrasonography01:24

Imaging Studies II: Ultrasonography

IntroductionUltrasonography, or renal ultrasound, is a noninvasive medical imaging technique that uses high-frequency sound waves to visualize the kidneys, ureters, bladder, and surrounding tissues.Indications for Urinary System UltrasonographyUrinary system ultrasonography is indicated in various clinical scenarios, such as:Kidney Stones (Urolithiasis): To detect and monitor the size and presence of kidney or urinary tract stones.Hydronephrosis: To assess the dilation of the renal pelvis and...
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The formation of dilute urine is a critical renal adaptation that maintains fluid balance, particularly during periods of high fluid intake. This process primarily involves the juxtamedullary nephrons. By adjusting the permeability of water and ions in response to physiological conditions, the kidneys can either conserve or excrete water, resulting in concentrated or dilute urine.
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Nephrotic Syndrome I : Introduction

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Diabetes Insipidus II: Pathophysiology

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Acute Kidney Injury III: Clinical Manifestations

Acute Kidney Injury (AKI) progresses through distinct clinical phases: the oliguric, diuretic, and recovery phases, each marked by unique manifestations and challenges.Oliguric Phase:The oliguric phase is the initial stage of AKI, typically lasting 10 to 14 days. This phase is marked by a significant reduction in urine output, usually less than 400 mL per day, indicating decreased kidney function. Fluid retention is a prominent feature, leading to symptoms such as edema, hypertension, and...
Nephrons01:10

Nephrons

The kidneys are intricate organs with millions of working units known as nephrons. Each nephron features two major structures: the renal corpuscle, which facilitates blood plasma filtration, and the renal tubule, which handles the glomerular filtrate. Blood supply is directly linked to the nephrons. The renal corpuscle consists of the glomerulus, a capillary network, and the Bowman's capsule, a double-walled epithelial structure that encases the glomerulus. The filtering of blood plasma happens...

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Updated: May 27, 2026

Point-of-Care Kidney and Genitourinary Ultrasound in Adults: Image Acquisition
03:19

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Published on: June 21, 2024

Oligohydramnios associated with sonographically normal kidneys.

Ulrike John1, Kerstin Benz, Axel Hübler

  • 1Department of Pediatrics, University of Jena, Germany.

Urology
|November 18, 2011
PubMed
Summary
This summary is machine-generated.

Renal tubular dysgenesis (RTD) is a rare condition causing kidney failure in newborns. Genetic diagnosis of ACE gene mutations is crucial for parents due to a 25% recurrence risk.

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Area of Science:

  • Pediatric Nephrology
  • Medical Genetics
  • Human Pathology

Background:

  • Renal tubular dysgenesis (RTD) is a severe congenital disorder.
  • It is characterized by abnormal development of renal tubules.
  • Oligohydramnios and fetal anuria are common clinical signs.

Observation:

  • A male newborn presented with normal kidney ultrasound but persistent anuric renal failure.
  • The infant experienced severe hypotension and died at 4 weeks of age despite intensive care.
  • Autopsy revealed histopathological derangements in renal structures, particularly proximal tubules and vessels.

Findings:

  • Histological findings confirmed the diagnosis of renal tubular dysgenesis (RTD).
  • Genetic analysis identified two heterozygous nonsense mutations in the Angiotensin-Converting Enzyme (ACE) gene.
  • These mutations are associated with autosomal recessive inheritance of RTD.

Implications:

  • Accurate genetic diagnosis of RTD is vital for affected families.
  • Understanding the genetic basis aids in genetic counseling.
  • Knowledge of the 25% recurrence risk informs reproductive decisions for parents.