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

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

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...

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Bibliographic Details
Main Authors: Se Eun Lee, Yun Hye Jung, Kyoung Hee Han, Hyun Kyung Lee, Hee Gyung Kang, Il Soo Ha, Yong Choi, Hae Il Cheong
Format: Article
Language:English
Published: Korean Pediatric Society 2011-02-01
Series:Korean Journal of Pediatrics
Subjects:
Pseudohypoaldosteronism
Mineralocorticoid
Receptor
gene
Infant
Online Access:http://kjp.or.kr/upload/pdf/kjped-54-90.pdf

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