Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Antihypertensive Drugs: Potassium-Sparing Diuretics01:28

Antihypertensive Drugs: Potassium-Sparing Diuretics

448
Liddle syndrome is a genetically inherited form of hypertension characterized by the overactivity of epithelial sodium channels in the nephron, the functional unit of the kidney. This heightened activity leads to increased sodium reabsorption and excessive excretion of potassium. To counteract this, potassium-sparing diuretics such as amiloride are used. They function by blocking these sodium channels, thereby reducing the influx of sodium into the epithelial cells and minimizing the loss of...
448
Renal Tubule and Collecting Duct01:24

Renal Tubule and Collecting Duct

770
The renal tubule is divided into three parts: the proximal convoluted tubule (PCT), the Loop of Henle (LOH), and the distal convoluted tubule (DCT).
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
770
Hypertension and Regulation of Blood Pressure01:18

Hypertension and Regulation of Blood Pressure

1.9K
Hypertension, the most common cardiovascular disease, is diagnosed through repeated measurements of elevated blood pressure. Its risks, including damage to the kidney, heart, and brain, are directly proportional to blood pressure levels. Starting from 115/75 mm Hg, the risk of cardiovascular disease doubles with each increment of 20/10 mm Hg. The diagnosis relies on blood pressure measurements, not on patient symptoms, as hypertension is often asymptomatic until end-organ damage is imminent or...
1.9K
Nephrons01:10

Nephrons

2.1K
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...
2.1K
Heart Failure Drugs: Diuretics01:22

Heart Failure Drugs: Diuretics

339
Heart failure and kidney perfusion are interconnected in a complex way. Reduced renal perfusion and venous congestion are two significant factors that contribute to renal dysfunction in heart failure. The kidneys, primarily responsible for fluid balance in the body, are adversely affected due to compromised cardiac output and increased venous pressure. In response to reduced renal perfusion, the kidneys activate neurohumoral mechanisms to restore balance. However, these mechanisms can be...
339
Regulation of Sodium and Potassium01:26

Regulation of Sodium and Potassium

396
The regulation of sodium and potassium ion concentrations in the human body is a complex process governed primarily by hormones such as aldosterone, antidiuretic hormone (ADH), and atrial natriuretic peptide (ANP).
Sodium Regulation
Sodium ions make up approximately 90% of extracellular cations, with a normal blood plasma concentration of 136–148 mEq/L. A decrease in blood volume and pressure triggers the release of renin from granular cells in the juxtaglomerular complex (JGC), primarily...
396

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Neuraminidase1 Activity Contributes to Vasopressin Receptor-mediated Augmentation of Water and Electrolyte Retention by the Kidney in <i>Eln</i> Haploinsufficient Mice.

bioRxiv : the preprint server for biology·2026
Same author

Differential Assembly of Native ENaC Complexes Across Mouse Epithelial Tissues.

Kidney360·2026
Same author

Ovarian hormones moderate systolic hypertension in female <i>Eln</i> haploinsufficient mice.

American journal of physiology. Renal physiology·2026
Same author

Macula densa-specific NOS1 knockout determines susceptibility to ischemic acute kidney injury.

Clinical science (London, England : 1979)·2026
Same author

C3 mutation-associated atypical hemolytic uremic syndrome with severe renal dysfunction and hypertensive emergency successfully treated with ravulizumab and sacubitril/valsartan: a case report.

BMC nephrology·2026
Same author

Kidney kallikrein-1 contributes to cleavage of γ-ENaC in vivo.

American journal of physiology. Renal physiology·2026
Same journal

The Evolution of Taste: Genetic, Dietary, and Cultural Pathways in Human Taste Perception.

Comprehensive Physiology·2026
Same journal

SLIT-ROBO Signaling in Diabetes: A Dual Regulator of Angiogenesis and Vascular Dysfunction.

Comprehensive Physiology·2026
Same journal

Heart-Specific Spinal and Vagal Afferents: Transcriptomic Signatures and Optogenetically Modulated Functional Coupling With Cardiomyocytes.

Comprehensive Physiology·2026
Same journal

The Adipose-Organ Communication Network in Clinical Obesity: From Adiposopathy to Systemic Metabolic Failure.

Comprehensive Physiology·2026
Same journal

Insight Into the Biological Link Between Novel Adiposity Indices and Incident Heart Failure.

Comprehensive Physiology·2026
Same journal

Domino Effect of the Kynurenine Pathway: Systemic Homeostasis, Metabolic Crosstalk, and Therapeutic Potential.

Comprehensive Physiology·2026
See all related articles

Related Experiment Video

Updated: Jun 4, 2025

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
08:46

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium

Published on: September 1, 2015

9.7K

Familial Hyperkalemic Hypertension.

Ryan J Cornelius1, Yujiro Maeoka2, Ujwal Shinde3

  • 1Division of Nephrology and Hypertension, Department of Medicine, Oregon Health and Science University, Portland, Oregon, USA.

Comprehensive Physiology
|December 19, 2024
PubMed
Summary
This summary is machine-generated.

Familial Hyperkalemic Hypertension (FHHt) arises from mutations in CUL3, KLHL3, WNK1, and WNK4 genes. These mutations disrupt kidney function, leading to hypertension and hyperkalemia by affecting NCC activity and ion transport.

More Related Videos

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.0K
Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
07:35

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Published on: June 23, 2015

11.5K

Related Experiment Videos

Last Updated: Jun 4, 2025

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
08:46

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium

Published on: September 1, 2015

9.7K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.0K
Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
07:35

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Published on: June 23, 2015

11.5K

Area of Science:

  • Nephrology
  • Genetics
  • Molecular Biology

Background:

  • Familial Hyperkalemic Hypertension (FHHt) is a rare genetic disorder.
  • Mutations in CUL3, KLHL3, WNK1, and WNK4 genes cause FHHt.
  • These mutations lead to hyperactivation of NCC in the kidney.

Purpose of the Study:

  • To outline the discovery of molecular pathways regulating NCC and vascular tone.
  • To explain how FHHt mutations disrupt these pathways.
  • To explore mechanisms of disease severity variability and potential extra-renal effects.

Main Methods:

  • In vitro studies
  • In vivo studies

Main Results:

  • CUL3 and KLHL3 form a complex that degrades WNK kinases.
  • Mutations disrupt this complex, leading to NCC hyperactivation.
  • CUL3 mutations also affect vasculature, contributing to hypertension.

Conclusions:

  • FHHt molecular pathways involve CUL3-KLHL3 ubiquitin ligase complex and WNK kinases.
  • Mutations disrupt NCC regulation and vascular tone, causing hypertension and hyperkalemia.
  • Variability in FHHt severity may relate to differential kidney and vascular effects.