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

Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of fluid...
Gastritis-II: Pathophysiology01:17

Gastritis-II: Pathophysiology

Gastritis is marked by disruption of the mucosal barrier that usually protects the stomach tissue from digestive juices and manifests in acute and chronic forms.
In acute gastritis, the gastric mucosa becomes swollen and red and undergoes superficial erosion. Superficial ulceration may lead to bleeding.
In chronic gastritis, persistent or repeated insults lead to chronic inflammatory changes and, eventually, thinning or atrophy of the gastric tissue.
Gastritis can stem from various causes, each...
Gastritis II: Pathophysiology01:26

Gastritis II: Pathophysiology

The pathophysiology of gastritis begins with the colonization of the stomach lining by Helicobacter pylori (H. pylori). This bacterium spreads mainly via the oral-oral route through saliva or shared utensils, and can also be transmitted in overcrowded or unhygienic environments through contaminated water, despite its brief survival outside the body.ColonizationOnce ingested, H. pylori enters the stomach and begins colonization by navigating through the mucus layer lining the stomach wall. It...
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Cirrhosis I: Introduction01:23

Cirrhosis I: Introduction

Cirrhosis is a chronic, irreversible liver disease characterized by the widespread replacement of healthy liver tissue with fibrotic scar tissue and the formation of regenerative nodules.Etiology of cirrhosisCirrhosis results from sustained liver injury that triggers progressive fibrosis and structural remodeling. The underlying causes are diverse, encompassing common and less frequent clinical conditions. Regardless of the origin, all causes lead to chronic inflammation, hepatocyte loss, and...

You might also read

Related Articles

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

Sort by
Same author

Case report of a child with kidney disease: consideration of the risk of a single APOL1 G2 allele with a protective N264K variant on the G0 parental chromosome.

BMC nephrology·2026
Same author

CCDC80 suppresses high-grade serous ovarian cancer migration via negative regulation of B7-H3.

Molecular oncology·2026
Same author

Temporary mycophenolate discontinuation and reintroduction in pediatric kidney transplantation: predictors and long-term outcomes.

Pediatric nephrology (Berlin, Germany)·2026
Same author

IKAROS Associated Immunodeficiency and Thrombotic Thrombocytopenic Purpura.

Pediatric blood & cancer·2025
Same author

Natural History of Advanced Primary Hyperoxaluria Type 1: A Retrospective Study.

Kidney medicine·2025
Same author

Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation.

Journal of medical genetics·2025

Related Experiment Video

Updated: May 26, 2026

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
06:23

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence

Published on: January 17, 2025

Gitelman's syndrome: a pathophysiological and clinical update.

Farid Nakhoul1, Nakhoul Nakhoul, Evgenia Dorman

  • 1Nephrology & Hypertension Division, Faculty of Medicine, Baruch-Padeh Poryia Medical Center, Lower Galilee, Israel. fnakhoul@Poria.health.gov.il

Endocrine
|December 16, 2011
PubMed
Summary

Gitelman syndrome, a genetic kidney disorder, can arise from compound heterozygous mutations in the SLC12A3 gene. This case highlights late-onset disease in siblings responsive to potassium and magnesium therapy.

More Related Videos

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

Related Experiment Videos

Last Updated: May 26, 2026

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
06:23

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence

Published on: January 17, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

Area of Science:

  • Nephrology
  • Medical Genetics

Background:

  • Gitelman syndrome (GS) is a rare, autosomal recessive inherited salt-losing tubulopathy.
  • It is characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria, typically due to SLC12A3 gene mutations.

Observation:

  • This study reports two adult male siblings of Jewish origin presenting with late-onset Gitelman syndrome in their fifth decade.
  • Symptoms included muscle weakness, hypokalemia, hypomagnesemia, and metabolic alkalosis.

Findings:

  • Molecular analysis revealed compound heterozygous mutations in the SLC12A3 gene, explaining the disease phenotype in the absence of homozygosity.
  • Missense mutations and large genomic rearrangements are common causes of GS, with repeated sequences in SLC12A3 predisposing to rearrangements.

Implications:

  • Compound heterozygosity in SLC12A3 can cause Gitelman syndrome, even with consanguineous inheritance.
  • Prompt replacement therapy with potassium and magnesium led to rapid clinical and biochemical improvement, underscoring treatment efficacy.