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


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WELZEL M., AKIN L. , BUESCHER A., Guran T., HAUFFA B. P. , Hoegler W., ...Daha Fazla

EUROPEAN JOURNAL OF ENDOCRINOLOGY, cilt.168, ss.707-715, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 168 Konu: 5
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1530/eje-12-1000
  • Dergi Adı: EUROPEAN JOURNAL OF ENDOCRINOLOGY
  • Sayfa Sayıları: ss.707-715

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.