Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

early-onset familial hypoaldosteronism - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

early-onset familial hypoaldosteronism

MONDO:0035320

Also known as:Early-onset familial hyperreninemic hypoaldosteronismSevere aldosterone synthase deficiency

Overview

A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low.

ResearchLimited published research (8 articles)

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for early-onset familial hypoaldosteronism.

8 publications have been identified in PubMed for early-onset familial hypoaldosteronism. Research spans Case Report / Case Series (63%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (13%).

Recent Publications

Tajima T (2026). [PMID: 41905953](https://pubmed.ncbi.nlm.nih.gov/41905953/). *Endocr J*. [Review / Meta-Analysis]
Yang J (2026). [PMID: 41889508](https://pubmed.ncbi.nlm.nih.gov/41889508/). *Front Med (Lausanne)*. [Basic Science / Preclinical]
Vijayakumar V (2025). [PMID: 40352883](https://pubmed.ncbi.nlm.nih.gov/40352883/). *Indian J Nephrol*. [Case Report / Case Series]
Khalifa HM (2025). [PMID: 41426917](https://pubmed.ncbi.nlm.nih.gov/41426917/). *Cureus*. [Case Report / Case Series]
Ghaddhab C (2025). [PMID: 38316111](https://pubmed.ncbi.nlm.nih.gov/38316111/). *Horm Res Paediatr*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 11:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:556030

GARD

Genetic and Rare Diseases Info Center

GARD:22243

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

early-onset familial hypoaldosteronism

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team