ArticleAmerican journal of hypertension2020
Mosaicism for KCNJ5 Causing Early-Onset Primary Aldosteronism due to Bilateral Adrenocortical Hyperplasia.
Article in American journal of hypertension, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Differences in the clinical and hormonal presentation of patients with familial and sporadic primary aldosteronism.Frontiers in endocrinology · 2024Pooled it
- Adrenal causes of endocrine hypertension in childhood or adolescence.Journal of endocrinological investigation · 2025Review
- Genetic Testing for Primary Aldosteronism in SPAIN: Results From the SPAIN-ALDO Registry and Review of the Literature.The Journal of clinical endocrinology and metabolism · 2025Review
- The adrenal gland and primary aldosteronism: anatomy, steroidogenesis, regulation, and genetic insights.Frontiers in endocrinology · 2025Review
- Primary aldosteronism: molecular medicine meets public health.Nature reviews. Nephrology · 2023Review
- O tempora, o mores: The Age We Live In, Machine Learning, Hypertension, and Primary Aldosteronism.JACC. Asia · 2023Article
- Histopathology and Genetic Causes of Primary Aldosteronism in Young Adults.The Journal of clinical endocrinology and metabolism · 2022Article
- Clinical Translationality ofInternational journal of molecular sciences · 2022Review
- Genetics of Primary Aldosteronism.Hypertension (Dallas, Tex. : 1979) · 2022Review
- Genetic Alterations in Benign Adrenal Tumors.Biomedicines · 2022Review
- Primary aldosteronism caused by a pI157S somaticFrontiers in endocrinology · 2022Article
- Disorders of the adrenal cortex: Genetic and molecular aspects.Frontiers in endocrinology · 2022Review
- Familial Hyperaldosteronism Type 3 with a Rapidly Growing Adrenal Tumor: An In Situ Aldosterone Imaging Study.Current issues in molecular biology · 2021Article
- Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.Nature genetics · 2021Article
- Cushing Syndrome in a Pediatric Patient With a KCNJ5 Variant and Successful Treatment With Low-dose Ketoconazole.The Journal of clinical endocrinology and metabolism · 2021Article
- Update on Genetics of Primary Aldosteronism.Biomedicines · 2021Review
- Transcriptomic uniqueness and commonality of the ion channels and transporters in the four heart chambers.Scientific reports · 2021Article
- Molecular Genetic and Genomic Alterations in Cushing's Syndrome and Primary Aldosteronism.Frontiers in endocrinology · 2021Review
- Adrenocortical tumorigenesis: Lessons from genetics.Best practice & research. Clinical endocrinology & metabolism · 2020Review
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundSomatic variants in KCNJ5 are the most common cause of primary aldosteronism (PA). There are few patients with PA in whom the disease is caused by germline variants in the KCNJ5 potassium channel gene (familial hyperaldosteronism type III-FH-III).
methodsA 5-year-old patient who developed hypertension due to bilateral adrenocortical hyperplasia (BAH) causing PA had negative peripheral DNA testing for any known genetic causes of PA. He was treated medically with adequate control of his PA but by the third decade of his life, due to worsening renal function, he underwent bilateral adrenalectomy.
resultsFocused exome sequencing in multiple nodules of his BAH uncovered a "hot-spot" pathogenic KCNJ5 variant, while repeated Sanger sequencing showed no detectable DNA defects in peripheral blood and other tissues. However, whole exome, "deep" sequencing revealed that 0.23% of copies of germline DNA did in fact carry the same KCNJ5 variant that was present in the adrenocortical nodules, suggesting low level germline mosaicism for this PA-causing KCNJ5 defect.
conclusionsThus, this patient represents a unique case of BAH due to a mosaic KCNJ5 defect. Undoubtedly, his milder PA compared with other known cases of FH-III, was due to his mosaicism. This case has a number of implications for the prognosis, treatment, and counseling of the many patients with PA due to BAH that are seen in hypertension clinics.
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