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, Cagla; Erdem, Durmaz; Mesut, MESUT; Merve, Akan; Sema, Akcurin; Iffet, Bircan; Afig, Berdeli

doi:10.1515/jpem-2012-0083

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., ...Daha Fazla

Journal of pediatric endocrinology & metabolism : JPEM, cilt.25, sa.9-10, ss.1035-9, 2012 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 25 Sayı: 9-10
Basım Tarihi: 2012
Doi Numarası: 10.1515/jpem-2012-0083
Dergi Adı: Journal of pediatric endocrinology & metabolism : JPEM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1035-9
Anahtar Kelimeler: aldosterone, epithelial sodium channel, pseudohypoaldosteronism, renin, salt loss, MULTISYSTEM PSEUDOHYPOALDOSTERONISM, ALPHA-SUBUNIT, EXPRESSION
Akdeniz Üniversitesi Adresli: Evet

Özet

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.