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. , ...Daha Fazla

CLINICAL ENDOCRINOLOGY, cilt.62, sa.5, ss.547-553, 2005 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 62 Konu: 5
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1111/j.1365-2265.2005.02255.x
  • Dergi Adı: CLINICAL ENDOCRINOLOGY
  • Sayfa Sayıları: ss.547-553

Özet

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.