Apparent Mineralocorticoid Excess Syndrome: Case Report
Bibliographic record
Abstract
Saad Aqeel Alsaadoun,1 Ameinah Thamer Alrasheedi,2 Seham Hossny Gazar,3 Ghadah Abdulrahman Alsallum3 1Division of Nephrology, Department of Pediatrics, King Saud Hospital, Unayzah, Saudi Arabia; 2Department of Pediatrics, College of Medicine, Qassim University, Buraydah, Saudi Arabia; 3Department of Pediatrics, King Saud Hospital, Unayzah, Saudi ArabiaCorrespondence: Ameinah Thamer Alrasheedi, Department of Pediatrics, College of Medicine, Qassim University, Buraydah, Saudi Arabia, Email at.alresheedi@qu.edu.saAbstract: Apparent Mineralocorticoid Excess (AME) syndrome is a rare form of high-blood pressure syndrome caused by genetic mutations in the 11b-hydroxysteroid dehydrogenase type 2 (HSD11B2) gene, inherited in an autosomal recessive manner. The condition can be either congenital or acquired. This report presents two cases of AME in children from consanguineous families identified through clinical assessment and whole-exome sequencing (WES). Symptoms included high blood pressure, hypokalemia, and metabolic alkalosis. AME syndrome was confirmed by WES, which revealed a homozygous missense pathogenic mutation c.622C>T p.(Arg208Cys) in exon 3 of the HSD11B2 gene. Treatment with spironolactone, and potassium chloride alone was not effective, so low-dose dexamethasone was added. Post-treatment, both patients showed significant improvement in their blood pressure and electrolyte levels. Diagnosis of AME syndrome can is often challenging because it is an extremely rare autosomal recessive disorder. Only five cases have been reported in Saudi Arabia, and only four case studies discussed treatment plans. This case report provides additional data to support the current literature and treatment protocols.Keywords: apparent mineralocorticoid excess syndrome (AME), HSD11B2 mutation, hypokalemic alkalosis, whole exome sequencing (WES), spironolactone treatment
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.003 |
| Meta-epidemiology (narrow) | 0.003 | 0.002 |
| Meta-epidemiology (broad) | 0.002 | 0.002 |
| Bibliometrics | 0.004 | 0.003 |
| Science and technology studies | 0.003 | 0.003 |
| Scholarly communication | 0.003 | 0.003 |
| Open science | 0.003 | 0.004 |
| Research integrity | 0.007 | 0.004 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".