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

[Genetic hypokalemia].

B Goichot1

  • 1Service de médecine interne et nutrition, hôpital de Hautepierre, CHRU, avenue Molière, 67098 Strasbourg, France. bernard.goichot@chru-strasbourg.fr

La Revue De Medecine Interne
|March 29, 2001
PubMed
Summary
This summary is machine-generated.

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

Survival of patients managed in France for duodenal neuroendocrine tumors (D-NET): a 20-year multicenter cohort study from the GTE group: a cohort study.

International journal of surgery (London, England)·2024
Same author

Controversy: Pros and cons screening of corticotropic deficiency after exogenous glucocorticoid therapy.

Annales d'endocrinologie·2018
Same author

Subclinical haemorrhage in non-functional adenomas.

Neuro-Chirurgie·2018
Same author

An unusual pituitary stalk lesion: What is the place of surgery?

Neuro-Chirurgie·2017
Same author

Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study.

European journal of endocrinology·2015
Same author

Clinical presentation of hyperthyroidism in a large representative sample of outpatients in France: relationships with age, aetiology and hormonal parameters.

Clinical endocrinology·2015
Same journal

[Abdominal pain, fever and arthralgia in a 49-year-old woman].

La Revue de medecine interne·2026
Same journal

[Cardiorespiratory functional disorders: A transnosologic approach].

La Revue de medecine interne·2026
Same journal

[Diagnostic evaluation for suspected polycythemia].

La Revue de medecine interne·2026
Same journal

Heart involvements in systemic sclerosis beyond pulmonary hypertension: From conduction, rhythm and function defects to coronary artery disease.

La Revue de medecine interne·2026
Same journal

[Acute intermittent porphyria: When diagnostic errance jeopardizes patient health].

La Revue de medecine interne·2026
Same journal

Autosomal dominant polycystic kidney disease: Current perspectives in 2026.

La Revue de medecine interne·2026
See all related articles

Hypokalemia, a common electrolyte imbalance, can be genetic. Understanding its various causes, like Bartter's syndrome, is key for diagnosis and treatment.

Area of Science:

  • Endocrinology and Genetics
  • Nephrology
  • Molecular Medicine

Context:

  • Hypokalemia is a frequent electrolyte disturbance in hospitalized patients, often with a familial component.
  • Genetic causes of hypokalemia involve disorders of mineralocorticoid action, renal tubular function, or potassium cellular transfer.
  • Specific genetic conditions include apparent mineralocorticoid excess, Bartter's syndrome, Gitelman's syndrome, and hypokalemic periodic paralysis.

Purpose:

  • To review the genetic underpinnings of hypokalemia.
  • To highlight the diverse molecular mechanisms contributing to hypokalemia.
  • To emphasize the importance of clinical and biological evaluation for guiding genetic analysis.

Summary:

  • Genetic hypokalemia encompasses a spectrum of disorders affecting mineralocorticoid pathways, renal tubules, and potassium transport.

Related Experiment Videos

  • Distinguishing between adult and pediatric forms of conditions like Bartter's syndrome is crucial, as molecular mechanisms may differ.
  • Comprehensive clinical assessment and biological evaluation are essential for accurate diagnosis and understanding the natural history.

    • Impact:

    • Improved diagnostic strategies for familial hypokalemia.
    • Enhanced understanding of the molecular basis of renal tubular and endocrine disorders.
    • Potential for improved patient management and prognosis through tailored genetic analysis and longitudinal follow-up.