Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1

Welzel M., AKIN L., Buescher A., GÜRAN T., Hauffa B. P., Hoegler W., ...Daha Fazla

EUROPEAN JOURNAL OF ENDOCRINOLOGY, cilt.168, sa.5, ss.707-715, 2013 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 168 Sayı: 5
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1530/eje-12-1000
  • Dergi Adı: EUROPEAN JOURNAL OF ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.707-715
  • Marmara Üniversitesi Adresli: Evet

Özet

Background: Pseudohypoaldosteronism type 1 (PHA1) is a monogenic disease caused by mutations in the genes encoding the human mineralocorticoid receptor (MR) or the alpha (SCNN1A), beta (SCNN1B) or gamma (SCNN1G) subunit of the epithelial Na+ channel (ENaC). While autosomal dominant mutation of the MR cause renal PHA1, autosomal recessive mutations of the ENaC lead to systemic PHA1. In the latter, affected children suffer from neonatal onset of multi-organ salt loss and often exhibit cystic fibrosis-like pulmonary symptoms.