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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ABSTRACT
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.
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