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Journal of the Korean Society of Pediatric Nephrology 2013;17(2): 137-142. doi: https://doi.org/10.3339/jkspn.2013.17.2.137
SCNN1A 유전자 변이로 발생한 상염색체 열성 가성 저 알도스테론증 1형 1례
김수연, 이주훈, 정해일*, 박영서
1울산대학교 의과대학 서울아산병원 소아청소년병원 소아청소년과
2서울대학교 어린이병원 소아청소년과*
A Case of Autosomal Recessive Pseudohypoaldosteronism Type 1 with a Novel Mutation in the SCNN1A Gene
Su-Yon Kim, Joo Hoon Lee, Hae Il Cheong*, Young Seo Park
1Department of Pediatrics, Asan Medical Center, Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea
2Department of Pediatrics*, Seoul National University Children’s Hospital
Corresponding Author: Young Seo Park ,Tel: 02-3010-3374, Fax: 02-473-3725, Email: yspark@amc.seoul.kr
Received: September 13, 2013;  Accepted: October 15, 2013.
This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http:// creativecommons. org/licenses/bync/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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Pseudohypoaldosteronism (PHA) is a condition characterized by renal salt wasting, hyperkalemia, and metabolic acidosis due to renal tubular resistance to aldosterone. Systemic PHA1 is a more severe condition caused by defective transepithelial sodium transport due to mutations in the genes encoding the α (SCNN1A), β (SCNN1B), or γ (SCNN1G) subunits of the epithelial sodium channel at the collecting duct, and involves the sweat glands, salivary glands, colon, and lung. Although systemic PHA1 is a rare disease, we believe that genetic studies should be performed in patients with normal renal function but with high plasma renin and aldosterone levels, without a history of potassium-sparing diuretic use or obstructive uropathy. In the present report, we describe a case of autosomal recessive PHA1 that was genetically diagnosed in a newborn after severe hyperkalemia was noted.
Key words: Pseudohypoaldosteronism Type I | Hyperkalemia | Hyponatremia | Metabolic acidosis
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