Search

  • HOME
  • Search
Case Report
A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene
Se Eun Lee, Yun Hye Jung, Kyoung Hee Han, Hyun Kyung Lee, Hee Gyung Kang, Il Soo Ha, Yong Choi, Hae Il Cheong
Clin Exp Pediatr. 2011;54(2):90-93.   Published online February 28, 2011

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 encoding the mineralocorticoid receptor, autosomal recessive PHA1 due to mutations of the epithelial sodium channel (ENaC) gene, and...

Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis
Se Eun Lee, Kyoung Hee Han, Yun Hye Jung, Hyun Kyung Lee, Hee Gyung Kang, Kyung Chul Moon, Il Soo Ha, Yong Choi, Hae Il Cheong
Clin Exp Pediatr. 2011;54(1):36-39.   Published online January 31, 2011

Bartter syndrome (BS) is a clinically and genetically heterogeneous inherited renal tube disorder characterized by renal salt wasting, hypokalemic metabolic alkalosis and normotensive hyperreninemic hyperaldosteronism. There have been several case reports of BS complicated by focal segmental glomerulosclerosis (FSGS). Here, we have reported the case of a BS patient who developed FSGS and subsequent end-stage renal disease (ESRD) and provided...



TOPICS

Browse all articles >

ARTICLE CATEGORY

Browse all articles >

BROWSE ARTICLES
FOR CONTRIBUTORS
ABOUT
Editorial Office
Korean Pediatric Society
#1606 Seocho World Officetel, 19 Seoun-ro, Seocho-ku, Seoul 06732, Korea
Tel: +82-2-3473-7306    Fax: +82-2-3473-7307    E-mail: office@e-cep.org                

Clinical and Experimental Pediatrics is an open access journal. All articles are distributed under the terms of the Creative Commons Attribution NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/)

Copyright © 2025 by Korean Pediatric Society.      Developed in M2PI