A novel splice site mutation of the beta subunit gene of epithelial sodium channel (ENaC) in one Turkish patient with a systemic form of pseudohypoaldosteronism Type 1.

Dogan C. S., Erdem D., Mesut P., Merve A., Sema A., Iffet B., ...More

Journal of pediatric endocrinology & metabolism : JPEM, vol.25, no.9-10, pp.1035-9, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 25 Issue: 9-10
  • Publication Date: 2012
  • Doi Number: 10.1515/jpem-2012-0083
  • Journal Name: Journal of pediatric endocrinology & metabolism : JPEM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1035-9
  • Keywords: aldosterone, epithelial sodium channel, pseudohypoaldosteronism, renin, salt loss, MULTISYSTEM PSEUDOHYPOALDOSTERONISM, ALPHA-SUBUNIT, EXPRESSION
  • Akdeniz University Affiliated: Yes

Abstract

Background/aims: Pseudohypoaldosteronism Type 1 (PHA1) is a rare heterogeneous syndrome characterized by severe salt loss, hyperkalemia, hyponatremia, metabolic acidosis, hyperaldosteronism and hyperreninemia. Multi-system form of PHA1 is caused by mutations in one of the genes encoding the alpha, beta and gamma subunits of epithelial sodium channels (ENaC). In this study, we presented a novel splice site mutation in the beta-gene of ENaC in a patient with multi-system PHA.