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

Sue S. Chang, Stefan Grunder, Aaron Hanukoglu, Ariel Rösler, P. M. Mathew, Israel Hanukoglu, Laurent Schild, Yin Lu, Richard A. Shimkets, Carol Nelson-Williams, Bernard C. Rossier, Richard P. Lifton

Research output: Contribution to journalArticlepeer-review

738 Scopus citations

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 α or β 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.

Original languageEnglish
Pages (from-to)248-253
Number of pages6
JournalNature Genetics
Volume12
Issue number3
DOIs
StatePublished - Mar 1996

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