ArticleCase reports in pediatrics2017
Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature.
Article in Case reports in pediatrics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
17 citing papers in PubMed, 23 citations in OpenAlex.
- A Rare Cause of Neonatal Salt Wasting Syndrome: Clinical Management of a Case Diagnosed with Pseudohypoaldosteronism due to a Novel Homozygous Variant in theJournal of clinical research in pediatric endocrinology · 2026Article
- Article
- Case Report: Autoimmune hepatitis in a patient with pseudohypoaldosteronism type 1-insights into a rare co-occurrence.Frontiers in pediatrics · 2025Article
- Pseudohypoaldosteronism Type 1B and Cohen Syndrome: Novel Mutation, Unusual Combination, and Presentation.Cureus · 2024Article
- Cardiac arrest in a newborn: A case of pseudohypoaldosteronism.Clinical case reports · 2024Article
- Case report: Early molecular confirmation and sodium polystyrene sulfonate management of systemic pseudohypoaldosteronism type I.Frontiers in endocrinology · 2023Article
- A NovelJournal of clinical research in pediatric endocrinology · 2022Article
- Diagnostic and management considerations in pseudohypoaldosteronism type 1b.BMJ case reports · 2022Article
- Case Report: A Novel Compound Heterozygote Mutation of theFrontiers in pediatrics · 2022Article
- Clinical Management in Systemic Type Pseudohypoaldosteronism Due toJournal of clinical research in pediatric endocrinology · 2021Review
- Cystic Fibrosis: Overview of the Current Development Trends and Innovative Therapeutic Strategies.Pharmaceutics · 2020Review
- Recognizing genetic disease: A key aspect of pediatric pulmonary care.Pediatric pulmonology · 2020Review
- Recent insights into sodium and potassium handling by the aldosterone-sensitive distal nephron: implications on pathophysiology and drug discovery.Journal of nephrology · 2020Review
- An infantile case of pseudohypoaldosteronism type 1 (PHA1) caused by a novel mutation ofClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2020Article
- Dangerous hyperkalemia in a newborn: Answers.Pediatric nephrology (Berlin, Germany) · 2019Article
- The epithelial sodium channel (ENaC) as a therapeutic target for cystic fibrosis.Current opinion in pharmacology · 2018Review
- A RARE CAUSE OF NEONATAL SALT WASTING: CLINICAL MANAGEMENT OF A CASE WITH PSEUDOHYPOALDOSTERONISM DETECTED WITH A NOVEL HOMOZYGOUS VARIANT IN THE SCNN1A GENE.Acta endocrinologica (Bucharest, Romania : 2005)Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.