Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism


Edelheit O., Hanukoglu I., Gizewska M., Kandemir N., Tenenbaum-Rakover Y., Yurdakok M. , ...More

CLINICAL ENDOCRINOLOGY, vol.62, no.5, pp.547-553, 2005 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 62 Issue: 5
  • Publication Date: 2005
  • Doi Number: 10.1111/j.1365-2265.2005.02255.x
  • Title of Journal : CLINICAL ENDOCRINOLOGY
  • Page Numbers: pp.547-553

Abstract

Objectives Multisystem pseudohypoaldosteronism (PHA) is a rare autosomal recessive aldosterone unresponsiveness syndrome that results from mutations in the genes encoding epithelial sodium channel (ENaC) subunits alpha, beta and gamma. In this study we examined three PHA patients to identify mutations responsible for PHA with different clinical presentations.