Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1
Details
Serval ID
serval:BIB_63E413D0B1C0
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1
Journal
Nature Genetics
ISSN
1061-4036
Publication state
Published
Issued date
03/1996
Peer-reviewed
Oui
Volume
12
Number
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
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S. --- Old month value: Mar
Abstract
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.
Keywords
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
Create date
24/01/2008 13:00
Last modification date
20/08/2019 14:20