Pseudohypoaldosteronism in a newborn male with functional polymorphisms in the mineralocorticoid receptor genes

• Main Authors: Hyun Ah Jeong (Author), Yoon Kyoung Park (Author), Yeong Sang Jung (Author), Myung-Hyun Nam (Author), Hyo-Kyoung Nam (Author), Kee Hyoung Lee (Author), Young-Jun Rhie (Author)
• Formato: Libro
• Publicado: Korean Society of Pediatric Endocrinology, 2015-12-01T00:00:00Z.
• Subjects: article
• Acceso en liña: Connect to this object online.

Hyponatremia and hyperkalemia in infancy can be attributed to various causes, originating from a variety of renal and genetic disorders. Pseudohypoaldosteronism type 1 (PHA1) is one of these disorders, causing mineralocorticoid resistance that results in urinary salt wasting, failure to thrive, meta...