A Novel SCNN1A Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 1

• Main Authors: Mohammed Ayed Huneif (Author), Ziyad Hamad Alhazmy (Author), Anas M. Shoomi (Author), Mohammed A. Alghofely (Author), Humariya Heena (Author), Aziza M. Mushiba (Author), Abdulhamid Alsaheel (Author)
• Format: Book
• Published: Galenos Yayincilik, 2022-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Pseudohypoaldosteronism type 1 (PHA1) is an autosomal-recessive disorder characterized by defective regulation of body sodium (Na) levels. The abnormality results from mutations in the genes encoding subunits of the epithelial Na channel. Patients with PHA1 present in infancy as being in adrenal cri...