Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature
Joint Authors
Quintos, Jose Bernardo
Nur, Nasifa
Lang, Cameron
Hodax, Juanita K.
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-04-18
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Nur, Nasifa& Lang, Cameron& Hodax, Juanita K.& Quintos, Jose Bernardo. 2017. Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature. Case Reports in Pediatrics،Vol. 2017, no. 2017, pp.1-8.
https://search.emarefa.net/detail/BIM-1149466
Modern Language Association (MLA)
Nur, Nasifa…[et al.]. Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature. Case Reports in Pediatrics No. 2017 (2017), pp.1-8.
https://search.emarefa.net/detail/BIM-1149466
American Medical Association (AMA)
Nur, Nasifa& Lang, Cameron& Hodax, Juanita K.& Quintos, Jose Bernardo. Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature. Case Reports in Pediatrics. 2017. Vol. 2017, no. 2017, pp.1-8.
https://search.emarefa.net/detail/BIM-1149466
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1149466