ReviewJournal of translational medicine2022
Apparent mineralocorticoid excess: comprehensive overview of molecular genetics.
Review in Journal of translational medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 32 citations in OpenAlex.
- Monogenic Kidney Disorders as Hidden Drivers of Electrolyte Imbalance and Hypertension.Electrolyte & blood pressure : E & BP · 2026Review
- Failure to thrive in children with tubulopathies.Pediatric nephrology (Berlin, Germany) · 2026Review
- A rare genetically confirmed case of apparent mineralocorticoid excess syndrome due to a homozygous HSD11B2 variant in a 2-year-old child with severe hypertension: response to targeted therapy.Clinical and experimental pediatrics · 2026Article
- Integrated Chemical and Toxicity Screening of Tap Drinking Water across Western Oregon Using Suspect and Nontarget Screening.Environmental science & technology · 2026Article
- Apparent mineralocorticoid excess with a novelJCEM case reports · 2026Article
- The genetics of hypertension.Nature reviews. Nephrology · 2026Review
- Unleashing the potential of traditional Chinese medicine: a computational approach to discovering drug targets utilizing the CSLN and molecular dynamics.Molecular diversity · 2026Article
- A rare case of apparent mineralocorticoid excess induced by chronic liquorice ingestion.Endocrinology, diabetes & metabolism case reports · 2026Article
- Population-based estimates of the global prevalence and carrier frequency of apparent mineralocorticoid excess caused by 11β-hydroxysteroid dehydrogenase type 2 deficiency.Orphanet journal of rare diseases · 2025Article
- Adrenal causes of endocrine hypertension in childhood or adolescence.Journal of endocrinological investigation · 2025Review
- Diagnosing apparent mineralocorticoid excess in a child with hypertension and nephrocalcinosis: from symptoms to genetics.CEN case reports · 2025Article
- Aldosterone: From Essential Tubular Regulator to Pathological Driver-Physiology, Disease, and Therapeutic Advances.International journal of molecular sciences · 2025Review
- Article
- Genetic background of neonatal hypokalemia.Pediatric nephrology (Berlin, Germany) · 2025Review
- Apparent Mineralocorticoid Excess Syndrome: Case Report.International medical case reports journal · 2025Article
- An in Vitro triple screen model for human mineralocorticoid receptor activity.The Journal of steroid biochemistry and molecular biology · 2024Article
- Pseudohyperaldosteronism Due to Licorice: A Practice-Based Learning from a Case Series.International journal of molecular sciences · 2024Article
- Monogenic Hypertension Linked to the Renin-Angiotensin-Aldosterone System.Anatolian journal of cardiology · 2024Article
- Genetics of Hypertension: From Monogenic Analysis to GETomics.Journal of cardiovascular development and disease · 2024Review
- Review of childhood genetic nephrolithiasis and nephrocalcinosis.Frontiers in genetics · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Apparent mineralocorticoid excess is an autosomal recessive form of monogenic disease characterized by juvenile resistant low-renin hypertension, marked hypokalemic alkalosis, low aldosterone levels, and high ratios of cortisol to cortisone metabolites. It is caused by defects in the HSD11B2 gene, encoding the enzyme 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2), which is primarily involved in the peripheral conversion of cortisol to cortisone. To date, over 50 deleterious HSD11B2 mutations have been identified worldwide. Multiple molecular mechanisms function in the lowering of 11β-HSD2 activity, including damaging protein stability, lowered affinity for the substrate and cofactor, and disrupting the dimer interface. Genetic polymorphism, environmental factors as well as epigenetic modifications may also offer an implicit explanation for the molecular pathogenesis of AME. A precise diagnosis depends on genetic testing, which allows for early and specific management to avoid the morbidity and mortality from target organ damage. In this review, we provide insights into the molecular genetics of classic and non-classic apparent mineralocorticoid excess and aim to offer a comprehensive overview of this monogenic disease.
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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.