Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Pediatrics
Volume 2017 (2017), Article ID 7939854, 8 pages
https://doi.org/10.1155/2017/7939854
Case Report

Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature

1Division of Pediatric Endocrinology, Rhode Island Hospital and The Warren Alpert Medical School of Brown University, Providence, RI, USA
2Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC, USA

Correspondence should be addressed to Jose Bernardo Quintos; ude.nworb@sotniuq_odranreb_esoj

Received 7 September 2016; Revised 15 February 2017; Accepted 19 March 2017; Published 18 April 2017

Academic Editor: James Stockand

Copyright © 2017 Nasifa Nur et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Systemic pseudohypoaldosteronism (PHA) type I is a rare genetic disorder resulting from mutations in the subunits of the epithelial sodium channel that manifests as severe salt wasting, hyperkalemia, and metabolic acidosis in infancy. In this article we report a patient with systemic PHA type I presenting with severe dehydration due to salt wasting at 6 days of life. She was found to have a known mutation in the SCNN1A gene and subsequently required treatment with sodium supplementation. We also review the clinical presentation, differential diagnosis, and treatment of systemic PHA type I and summarize data from 27 cases with follow-up data.