A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the

Humans Pseudohypoaldosteronism / genetics Epithelial Sodium Channels / genetics Mutation Mutation, Missense Phenotype
SCNN1A pseudohypoaldosteronism type 1 recessive transient

Journal

American journal of physiology. Endocrinology and metabolism
ISSN: 1522-1555
Titre abrégé: Am J Physiol Endocrinol Metab
Pays: United States
ID NLM: 100901226

Informations de publication

Date de publication:
01 07 2023
Historique:
medline: 16 6 2023
pubmed: 3 5 2023
entrez: 3 5 2023
Statut: ppublish

Résumé

We investigate the genetic etiology in a cohort of patients with a clinical, biochemical, and hormonal profile suggestive of a mild and transient form of pseudohypoaldosteronism type 1 (PHA1). Twelve patients with PHA1 from four different families with clinical and biochemical data were analyzed. The coding regions of

Identifiants

DOI: 10.1152/ajpendo.00332.2022 PMID: 37134141
pubmed: 37134141
doi: 10.1152/ajpendo.00332.2022
doi:

Substances chimiques

Epithelial Sodium Channels 0
SCNN1A protein, human 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

E1-E9

Auteurs

Alexandra Efthymiadou (A)

Division of Endocrinology, Department of Pediatrics, Medical School University of Patras, Patras, Greece.

Ivan Gautschi (I)

Department of Pharmacology and Toxicology, University of Lausanne, Lausanne, Switzerland.
ORCID: 0000-0002-4203-129X

Miguel Xavier van Bemmelen (MX)

Department of Pharmacology and Toxicology, University of Lausanne, Lausanne, Switzerland.
ORCID: 0000-0003-2762-6153

Amalia Sertedaki (A)

Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, Athens, Greece.
ORCID: 0000-0002-3648-3812

Aristeidis Giannakopoulos (A)

Division of Endocrinology, Department of Pediatrics, Medical School University of Patras, Patras, Greece.

George Chrousos (G)

Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, Athens, Greece.
ORCID: 0000-0002-3098-5264

Laurent Schild (L)

Department of Pharmacology and Toxicology, University of Lausanne, Lausanne, Switzerland.

Dionisios Chrysis (D)

Division of Endocrinology, Department of Pediatrics, Medical School University of Patras, Patras, Greece.
ORCID: 0000-0002-7779-9207

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A mild and transient form of autosomal...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Pseudohypoaldostéronisme › A mild and transient form of autosomal...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Canaux ioniques › Canaux sodiques › Canaux sodium épithéliaux › A mild and transient form of autosomal...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › A mild and transient form of autosomal...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › A mild and transient form of autosomal...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › A mild and transient form of autosomal...