A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene

• Main Authors: Se Eun Lee (Author), Yun Hye Jung (Author), Kyoung Hee Han (Author), Hyun Kyung Lee (Author), Hee Gyung Kang (Author), Il Soo Ha (Author), Yong Choi (Author), Hae Il Cheong (Author)
• Format: Book
• Published: Korean Pediatric Society, 2011-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Pseudohypoaldosteronism type 1 (PHA1) is a rare form of mineralocorticoid resistance characterized in newborns by salt wasting with dehydration, hyperkalemia and failure to thrive. This disease is heterogeneous in etiology and includes autosomal dominant PHA1 owing to mutations of the NR3C2 gene enc...