A case with pseudohypoaldosteronism type 1 and investigation of molecular genetic etiology
Küçük Resim Yok
Tarih
2017
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Duzce University Medical School
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Pseudohypoaldosteronism is a salt-wasting pattern that manifests with hyponatremia, hyperkalemia, and metabolic acidosis, and is the result of aldosterone peripheral nonresponse in renal tubule cells. Peripheral resistance development may occur as a result of mutations in the mineralocorticoid receptor or epithelial sodium channel; it can also develop as a secondary to infection, uropathy and receptor resistance due to drug use. Type 1 PHA is inherited as both autosomal dominant (sporadic-renal form) and autosomal recessive (systemic form). Systemic pseudohypoaldosteronism type 1 is autosomal recessive and the most severe form. Loss of function in one of the three subunits of the epithelial sodium channel (EnaC) is responsible for the disease (the alpha subunit (SCNN1A; 12p13), the beta subunit (SCNN1B; 16p12.2-p12.1), and the Gamma subunit (SCNN1G; 16p12). We present a patient who was diagnosed the primary pseudohypoaldosteronism type 1 for contribution to the literature, which is a rare disease and can be confused with other diseases caused by salt loss. © 2017, Duzce University Medical School. All rights reserved.
Açıklama
Anahtar Kelimeler
Newborn; Pseudohypoaldosteronism type 1; Salt-wasting
Kaynak
Duzce Medical Journal
WoS Q Değeri
Scopus Q Değeri
Q4
Cilt
19
Sayı
3
