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

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

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 pres...

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Main Authors: Nasifa Nur, Cameron Lang, Juanita K. Hodax, Jose Bernardo Quintos
Format: Article
Language:English
Published: Hindawi Limited 2017-01-01
Series:Case Reports in Pediatrics
Online Access:http://dx.doi.org/10.1155/2017/7939854
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spelling doaj-2d38fba78ac84b029b662b6f6a6529792020-11-24T20:51:46ZengHindawi LimitedCase Reports in Pediatrics2090-68032090-68112017-01-01201710.1155/2017/79398547939854Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the LiteratureNasifa Nur0Cameron Lang1Juanita K. Hodax2Jose Bernardo Quintos3Division of Pediatric Endocrinology, Rhode Island Hospital and The Warren Alpert Medical School of Brown University, Providence, RI, USADepartment of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC, USADivision of Pediatric Endocrinology, Rhode Island Hospital and The Warren Alpert Medical School of Brown University, Providence, RI, USADivision of Pediatric Endocrinology, Rhode Island Hospital and The Warren Alpert Medical School of Brown University, Providence, RI, USASystemic 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.http://dx.doi.org/10.1155/2017/7939854
collection DOAJ
language English
format Article
sources DOAJ
author Nasifa Nur
Cameron Lang
Juanita K. Hodax
Jose Bernardo Quintos
spellingShingle Nasifa Nur
Cameron Lang
Juanita K. Hodax
Jose Bernardo Quintos
Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature
Case Reports in Pediatrics
author_facet Nasifa Nur
Cameron Lang
Juanita K. Hodax
Jose Bernardo Quintos
author_sort Nasifa Nur
title Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature
title_short Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature
title_full Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature
title_fullStr Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature
title_full_unstemmed Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature
title_sort systemic pseudohypoaldosteronism type i: a case report and review of the literature
publisher Hindawi Limited
series Case Reports in Pediatrics
issn 2090-6803
2090-6811
publishDate 2017-01-01
description 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.
url http://dx.doi.org/10.1155/2017/7939854
work_keys_str_mv AT nasifanur systemicpseudohypoaldosteronismtypeiacasereportandreviewoftheliterature
AT cameronlang systemicpseudohypoaldosteronismtypeiacasereportandreviewoftheliterature
AT juanitakhodax systemicpseudohypoaldosteronismtypeiacasereportandreviewoftheliterature
AT josebernardoquintos systemicpseudohypoaldosteronismtypeiacasereportandreviewoftheliterature
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