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