Pseudohypoaldosteronism in a newborn male with functional polymorphisms in the mineralocorticoid receptor genesPseudohypoaldosteronism in a newborn male with functional polymorphisms in the mineralocorticoid receptor genes
- Other Titles
- Pseudohypoaldosteronism in a newborn male with functional polymorphisms in the mineralocorticoid receptor genes
- Authors
- Hyun Ah Jeong; Yoon Kyoung Park; Yeong Sang Jung; Myung-Hyoung Na; 남효경; Kee-Hyoung Lee; 이영준
- Issue Date
- 2015
- Publisher
- 대한소아내분비학회
- Keywords
- Pseudohypoaldosteronism; NR3C2 gene; Mineralocorticoid receptors; Hyponatremia; Hyperkalemia
- Citation
- Annals of Pediatirc Endocrinology & Metabolism, v.20, no.4, pp.230 - 234
- Indexed
- KCI
- Journal Title
- Annals of Pediatirc Endocrinology & Metabolism
- Volume
- 20
- Number
- 4
- Start Page
- 230
- End Page
- 234
- URI
- https://scholar.korea.ac.kr/handle/2021.sw.korea/95394
- ISSN
- 1226-2242
- Abstract
- 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, metabolic acidosis, and dehydration.
PHA1 is heterogeneous in etiology. Inactivating mutations in the NR3C2 gene (4q31.1), which encodes the mineralocorticoid receptor, causes a less severe autosomal dominant form that is restricted to the kidney, while mutations in the amiloride-sensitive epithelial sodium channel gene (alpha subunit=SCNN1A, 12p13; beta subunit=SCNN1b, 16p12.2-p12.1; gamma subunit=SCNN1G, 16p12) causes a more severe autosomal recessive form, which has systemic effects. Here we report a neonatal case of kidney restricted PHA1 (renal type of PHA1) who first showed laboratory abnormalities before obvious PHA1 manifestations, with two functional polymorphisms in the NR3C2 gene. This is the second genetically confirmed case in Korea and the first to show functional polymorphisms that have previously been reported in the literature.
- Files in This Item
- There are no files associated with this item.
- Appears in
Collections - College of Medicine > Department of Medical Science > 1. Journal Articles
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.