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Korean J Pediatr 2011 February;54(2) :90-93.
doi:https://doi.org/10.3345/kjp.2011.54.2.90
A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene
Se Eun Lee (Lee SE)1, Yun Hye Jung (Jung YH)1, Kyoung Hee Han (Han KH)1, Hyun Kyung Lee (Lee HK)1, Hee Gyung Kang (Kang HG), Il Soo Ha (Ha IS), Yong Choi (Choi Y)4, Hae il Cheong (Cheong Hi)
Department of Pediatrics, Seoul National University Childrens Hospital, Research Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea
Department of Pediatrics, Seoul National University Childrens Hospital, Kidney Research Institute3, Medical Research Center, Seoul National University Hospital, Seoul, Korea
Department of Pediatrics, Seoul National University Childrens Hospital, Research Center for Rare Diseases, Kidney Research Institute, Medical Research Center, Seoul National University Hospital, Seoul, Korea
1Department of Pediatrics, Seoul National University Childrens Hospital, Seoul, Korea
4Department of Pediatrics, Inje University Haeundae Paik Hospital, Busan, Korea
Corresponding Author: Hae il Cheong ,Tel: +82.2-2072-2810, Fax: +82.2-743-3455, Email: cheonghi@snu.ac.kr
Copyright © 2011 by The Korean Pediatric Society
ABSTRACT
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 secondary PHA1 associated with urinary tract diseases. Amongst these diseases, autosomal dominant PHA1 shows has manifestations restricted to renal tubules including a mild salt loss during infancy and that shows a gradual improvement with advancing age. Here, we report a neonatal case of PHA1 with a NR3C2 gene mutation (a heterozygous c.2146_2147insG in exon 5), in which the patient showed failure to thrive, hyponatremia, hyperkalemia, and elevated plasma renin and aldosterone levels. This is the first case of pseudohypoaldosteronism type 1 confirmed by genetic analysis in Korea.
Keywords: Pseudohypoaldosteronism | Mineralocorticoid | Receptor | NR3C2 gene | Infant
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