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 pseudohypoaldosteronism.

C Popow1, A Pollak, K Herkner

  • 1Department of Paediatrics, University of Vienna, Austria.

Acta Paediatrica Scandinavica
|January 1, 1988
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

Attention-deficit hyperactivity disorder and executive dysfunction in preschool children. A comparison of NEPSY and BRIEF-P assessments.

L'Encephale·2021
Same author

[Advocacy for pediatric care].

Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde·2021
Same author

KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy.

Clinical genetics·2016
Same author

Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

Journal of translational medicine·2016
Same author

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.

Clinical genetics·2016
Same author

Psychopathology among parents of children and adolescents with separation anxiety disorder.

Neuropsychiatrie : Klinik, Diagnostik, Therapie und Rehabilitation : Organ der Gesellschaft Osterreichischer Nervenarzte und Psychiater·2015
Same journal

Atrial natriuretic peptide and renin-aldosterone relationship in healthy newborn infants.

Acta paediatrica Scandinavica·1991
Same journal

Adult panhypopituritarism presenting as idiopathic growth hormone deficiency in childhood: really idiopathic?

Acta paediatrica Scandinavica·1991
Same journal

Growth hormone therapy and final height in girls with Turner's syndrome.

Acta paediatrica Scandinavica·1991
Same journal

Mineral metabolism in obese children.

Acta paediatrica Scandinavica·1991
Same journal

Sex differences in vulnerability?

Acta paediatrica Scandinavica·1991
Same journal

Idiopathic dilatation of the aorta with dissection in a family without Marfan syndrome.

Acta paediatrica Scandinavica·1991
See all related articles

This study followed two siblings with severe pseudohypoaldosteronism, revealing persistent salt wasting and hyperkalemia despite treatment. A key finding was reduced aldosterone receptor affinity, suggesting a potential mechanism for the condition.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Pseudohypoaldosteronism (PHA) is a rare disorder characterized by aldosterone resistance.
  • Severe PHA presents significant challenges in managing electrolyte balance, particularly in pediatric patients.

Observation:

  • Two siblings with severe PHA exhibited persistent high sodium-potassium ratios in multiple bodily fluids and elevated serum aldosterone and renin levels.
  • Episodes of salt wasting and hyperkalemia recurred, primarily during respiratory infections, despite continuous sodium chloride and cation exchange resin treatment.

Findings:

  • Aldosterone receptor binding studies in rectal mucosa revealed decreased affinity at the low-affinity binding site in affected children compared to controls.
  • Affected family members showed high sweat sodium concentrations and increased urinary tetrahydroaldosterone, indicating a potential familial predisposition.

Related Experiment Videos

Implications:

  • The findings suggest that reduced aldosterone receptor affinity may underlie severe PHA, contributing to treatment resistance.
  • Understanding these receptor characteristics is crucial for developing targeted therapies and improving management strategies for pseudohypoaldosteronism.