ArticleJournal of the Endocrine Society2021
A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population.
Article in Journal of the Endocrine Society, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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Who cites it
9 citing papers in PubMed, 11 citations in OpenAlex.
- Congenital aldosterone deficiency and its resistance.Endocrine journal · 2026Review
- Case Report: Compound Heterozygous SCNN1B Mutations Causing Pseudohypoaldosteronism Type 1B2 in Neonatal Twins.Molecular genetics & genomic medicine · 2026Article
- Case Report: Challenges in the diagnosis of pseudohypoaldosteronism: insights from a resource-limited setting.Frontiers in endocrinology · 2026Article
- Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics.Journal of medical genetics · 2025Article
- Case Report: Functional investigation of the γENaC G532S mutation presenting as mild PHA-1B3.Frontiers in medicine · 2025Article
- The Epithelial Sodium Channel-An Underestimated Drug Target.International journal of molecular sciences · 2023Review
- Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia.Reviews in endocrine & metabolic disorders · 2023Review
- Acid-Base Imbalance in Pseudohypoaldosteronism Type 1 in Comparison With Type IV Renal Tubular Acidosis.Journal of the Endocrine Society · 2022Article
- Case Report: A Novel Compound Heterozygote Mutation of theFrontiers in pediatrics · 2022Article
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextPseudohypoaldosteronism (PHA) is a condition in which serum aldosterone level is normal or elevated but its action is deficient.
objectiveThis study describes the molecular genetics of PHA 1b in the highly consanguineous population of 2 Arabian Gulf countries, Saudi Arabia and Oman.
methodsThis study enrolled 22 patients from 13 unrelated families (2 families with 5 patients from Oman and 11 families with 17 patients from Saudi Arabia). All of these patients had presented within the first 10 days of life with nausea and vomiting, hyponatremia, hyperkalemia, and hypotension. We isolated DNA from peripheral blood and PCR-sequenced all exons and exon-intron boundaries of
resultsWe found a total of 8 mutations in 13 families as follows: 6 mutations in
conclusionWe characterized a unique genotype of PHA 1b with several novel gene structure-disrupting mutations in
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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.