An infantile case of pseudohypoaldosteronism type 1 (PHA1) caused by a novelmutation of NR3C2

摘要

Pseudohypoaldosteronism type 1 (PHA1: OMIM # 177735) is an inherited salt wasting disorder,characterized by hyponatremia and hyperkalemia as a result of renal tubular insensitivity toaldosterone action during infancy ( ). Cheek and Perryfirst reported an infant with PHA1 in 1958 ( ). PHA1has the two forms, namely renal PHA1 with autosomal dominant inheritance, and systemic PHA1with an autosomal recessive inherited form. Renal PHA1 is caused by loss-of-functionmutations in the human nuclear receptor subfamily 3 group C member 2( ) gene ( ).