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

[Familial hyperaldosteronism].

B Spoto1, G Furlò, A Gervasi

  • 1CNR-IBIM, Consiglio Nazionale delle Ricerche, Istituto di Bio-Medicina Epidemiologia Clinica e Fisiopatologia delle Malattie Renali e dell'Ipertensione Arteriosa, Reggio Calabria.

Giornale Italiano Di Nefrologia : Organo Ufficiale Della Societa Italiana Di Nefrologia
|September 8, 2004
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

Coronal deformity of the knee in childrens and adolescents. A systematic review of current orthopaedics treatments.

La Clinica terapeutica·2024
Same author

High-Grade Chondrosarcoma of the Proximal Phalanx: an Unusual Case of a Rare Entity.

Acta chirurgiae orthopaedicae et traumatologiae Cechoslovaca·2023
Same author

Reconstruction of metatarsal bone after giant cell tumor resection with no vascularized fibular graft in a pediatric patient: Case report and review of literature.

Frontiers in pediatrics·2022
Same author

Wide resection for giant-cell tumor of the distal radius: which reconstruction? A systematic review of the literature and pooled analysis of 176 cases.

Hand surgery & rehabilitation·2022
Same author

Massive bone allograft engineered with autologous vessels: A new perspective for the future.

Hand surgery & rehabilitation·2022
Same author

Tales of two study designs in patients with chronic kidney failure: The case of the protein-energy wasting - inflammation syndromic complex.

Journal of internal medicine·2021
Same journal

[Rufus of Ephesus, On gout].

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia·2026
Same journal

A Case Report and Literature Review: Chlorhexidine-induced anaphylaxis in a hemodialysis patient.

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia·2026
Same journal

New Frontiers in the Treatment of Chronic Kidney Disease-associated Pruritus: A Case of Hemoperfusion with HA130.

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia·2026
Same journal

Fibronectin Glomerulopathy: A Case Report of Membranoproliferative Glomerulonephritis.

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia·2026
Same journal

Sodium Disorders in Multiple Myeloma: Beyond Pseudohyponatremia to Clinical Pitfalls and Mechanistic Insights.

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia·2026
Same journal

Acute Kidney Injury and Early Diagnostic Biomarkers: A Narrative Literature Review.

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia·2026
See all related articles

Familial hyperaldosteronism involves genetic causes of excess aldosterone. Type I results from a hybrid gene, while Type II

Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Context:

  • Primary aldosteronism presents as hypertension and hypokalemia, often caused by adrenal tumors or hyperplasia.
  • Genetic factors can also lead to primary aldosteronism, manifesting in familial subtypes.

Purpose:

  • To elucidate the genetic underpinnings of familial hyperaldosteronism, distinguishing between Type I and Type II.
  • To describe the molecular mechanisms and genetic loci associated with these distinct forms of hyperaldosteronism.

Summary:

  • Familial hyperaldosteronism Type I is an autosomal dominant disorder caused by unequal crossing over between CYP11B1 and CYP11B2 genes, creating a hybrid gene responsive to ACTH.
  • This hybrid gene leads to aldosterone hypersecretion suppressible by dexamethasone, with variable hypertension severity due to incomplete penetrance and expressivity.

Related Experiment Videos

  • Familial hyperaldosteronism Type II, also autosomal dominant, involves aldosterone hypersecretion not suppressed by dexamethasone and is genetically distinct, linked to chromosome 7p22.

    • Impact:

    • Understanding these genetic forms of hyperaldosteronism aids in accurate diagnosis and targeted treatment strategies.
    • Identifies specific genetic mutations and chromosomal loci, advancing the field of endocrine genetics.
    • Highlights the complex interplay of genetic factors in blood pressure regulation and the development of hypertension.