Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1

Détails

ID Serval
serval:BIB_63E413D0B1C0
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1
Périodique
Nature Genetics
Auteur(s)
Chang  S. S., Grunder  S., Hanukoglu  A., Rosler  A., Mathew  P. M., Hanukoglu  I., Schild  L., Lu  Y., Shimkets  R. A., Nelson-Williams  C., Rossier  B. C., Lifton  R. P.
ISSN
1061-4036
Statut éditorial
Publié
Date de publication
03/1996
Peer-reviewed
Oui
Volume
12
Numéro
3
Pages
248-53
Notes
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S. --- Old month value: Mar
Résumé
Autosomal recessive pseudohypoaldosteronism type I is a rare life-threatening disease characterized by severe neonatal salt wasting, hyperkalaemia, metabolic acidosis, and unresponsiveness to mineralocorticoid hormones. Investigation of affected offspring of consanguineous union reveals mutations in either the alpha or beta subunits of the amiloride-sensitive epithelial sodium channel in five kindreds. These mutations are homozygous in affected subjects, co-segregate with the disease, and introduce frameshift, premature termination or missense mutations that result in loss of channel activity. These findings demonstrate the molecular basis and explain the pathophysiology of this disease.
Mots-clé
Animals Base Sequence Dna Epithelial Sodium Channel Epithelium/metabolism Female Humans Infant Infant, Newborn Male Molecular Sequence Data *Mutation Pedigree Pseudohypoaldosteronism/classification/*genetics Rats Sodium Channels/*genetics/metabolism
Pubmed
Web of science
Création de la notice
24/01/2008 14:00
Dernière modification de la notice
20/08/2019 15:20
Données d'usage