ArticleFrontiers in endocrinology2024
Case report: Clinical characteristics and Genetical analysis of
Article in Frontiers in endocrinology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Upregulated Renal Mineralocorticoid Receptor and 11β-Hydroxysteroid Dehydrogenase Type 2 Are Associated with KInternational journal of molecular sciences · 2026Article
- 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
- Apparent mineralocorticoid excess with a novelJCEM case reports · 2026Article
- Apparent Mineralocorticoid Excess Syndrome: Case Report.International medical case reports journal · 2025Article
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Authors and funding
6 authors.
Funding
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Abstract
Background: Apparent Mineralocorticoid Excess (AME) is a rare autosomal recessive disorder, characterized by a notably complex diagnostic process. To date, the majority of documented cases have been presented as individual case reports. This article aims to enhance the understanding of the course and prognosis of AME, by detailing the management protocols employed for patients with genetically confirmed diagnoses. Methods: An analysis comprising three cases and a review of relevant literature were conducted to synthesize the insights and experiences derived from gathering clinical and laboratory data on patients. Results: All three patients were born to non-consanguineous parents, were small for gestational age and exhibited severe hypokalemia, metabolic alkalosis, hypertension, nephrocalcinosis, and hypercalciuria. The glomerular filtration rate was normal in all cases. One patient experienced complications related to hypertension. Genetic analysis revealed biallelic recessive variations in the Conclusion: This study presents the diagnostic and treatment experiences of three Chinese pediatric patients with AME type I. Through our analysis, four novel variants of the
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