Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults.

Journal of the American Society of Nephrology : JASN - 1 May 2006

Geller David S, Zhang Junhui, Zennaro Maria-Christina, Vallo-Boado Alberto, Rodriguez-Soriano Juan, Furu Laszlo, Haws Robert, Metzger Daniel, Botelho Barbara, Karaviti Lefkothea, Haqq Andrea M, Corey Howard, Janssens Sandra, Corvol Pierre, Lifton Richard P

Abstract excerpt

Autosomal dominant pseudohypoaldosteronism type 1 (adPHA1) is a rare condition that is characterized by renal resistance to aldosterone, with salt wasting, hyperkalemia, and metabolic acidosis. It is thought of as a mild disorder; affected children's symptoms respond promptly to salt therapy, and treatment is not required after childhood. Mutations in the mineralocorticoid receptor gene (MR) cause adPHA1, but the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Evidence-Based Medicine
Share to Gene Expression

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Heterozygote

Share to Incidence

Share to Pseudohypoaldosteronism

Share to Receptors, Mineralocorticoid

Share to Risk Assessment

Source

Identifiers

PMID: 16611713
DOI: 10.1681/ASN.2005111188

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults.PMID 16611713Read ↗

Aldosterone resistance: structural and functional considerations and new perspectives.Semantic proximity Read ↗

Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I.Semantic proximity Read ↗

Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism.Semantic proximity Read ↗

[Mineralocorticoid resistance: pseudohypoaldosteronism type 1].Semantic proximity Read ↗

Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity.Semantic proximity Read ↗

Clinical and Biochemical Characteristics of Pseudohypoaldosteronism Type 1 with and Without Genetic Mutations: A Literature ReviewSemantic proximity Read ↗

Aldosterone signaling defect in young infants: single-center report and review.Semantic proximity Read ↗

Cardiovascular effects of aldosterone: insight from adult carriers of mineralocorticoid receptor mutations.Semantic proximity Read ↗

Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1.Semantic proximity Read ↗

Mineralocorticoid resistance.Semantic proximity Read ↗

Clinical and molecular features of type 1 pseudohypoaldosteronism.Semantic proximity Read ↗

Pseudohypoaldosteronism types I and II: little more than a name in common.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.