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 Experiment Videos

Gitelman syndrome.

Nine V A M Knoers1

  • 1Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. n.knoers@antrg.umcn.nl

Advances in Chronic Kidney Disease
|April 4, 2006
PubMed
Summary

Gitelman syndrome, a genetic salt-losing kidney disorder, is better understood due to advances in molecular genetics. This review details its clinical features, genetic causes, and the mechanisms behind associated hypomagnesemia and hypocalciuria.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Biallelic <italic>TMEM72</italic> Variants in Patients with a Nephronophthisis-Like Phenotype.

Nephron·2025
Same author

Misfortunes never come singly: Microbial metabolites link heart failure and chronic kidney disease.

Cell host & microbe·2025
Same author

Increased mTOR signaling secondary to a human ILK missense variant inhibits nephrogenesis with decreased metabolism.

Mechanisms of ageing and development·2025
Same author

Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.

International journal of molecular sciences·2025
Same author

Limitations of Semi-Automated Immunomagnetic Separation of HLA-G-Positive Trophoblasts from Papanicolaou Smears for Prenatal Genetic Diagnostics.

Diagnostics (Basel, Switzerland)·2025
Same author

Genetic testing in a national cohort of adults with chronic kidney disease of unknown origin.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association·2024

Area of Science:

  • Nephrology
  • Genetics
  • Cell Physiology

Background:

  • Gitelman syndrome is an inherited renal tubular disorder characterized by salt loss and low potassium.
  • Recent molecular genetics and cell physiology research has significantly advanced understanding of its causes and mechanisms.

Purpose of the Study:

  • To review current knowledge on Gitelman syndrome.
  • To summarize recent findings on clinical and biochemical phenotypes, molecular genetics, and pathogenesis.
  • To focus on the mechanisms causing hypomagnesemia and hypocalciuria in Gitelman syndrome.

Main Methods:

  • Literature review of recent studies on Gitelman syndrome.
  • Synthesis of data on clinical presentation, biochemical markers, and genetic mutations.
  • Analysis of cellular mechanisms underlying the syndrome's pathophysiology.

Main Results:

  • Gitelman syndrome is linked to mutations in genes affecting ion transport in the distal tubules.
  • Hypomagnesemia and hypocalciuria are key features, with specific mechanisms now being elucidated.
  • Understanding of genotype-phenotype correlations is improving.

Conclusions:

  • Molecular genetics and cell physiology have greatly improved the understanding of Gitelman syndrome.
  • Further research into the pathogenesis of associated electrolyte imbalances is ongoing.
  • This review consolidates recent advances for researchers and clinicians.

Related Experiment Videos