2023
Chapter 8 Familial hyperaldosteronism
Pappachan J, Fernandez C, Geller D. Chapter 8 Familial hyperaldosteronism. 2023, 105-112. DOI: 10.1016/b978-0-323-96120-2.00016-9.ChaptersPrimary aldosteronismFamilial hyperaldosteronismMonogenic hypertensionOral glucocorticoid therapyGlucocorticoid-remediable aldosteronismRare autosomal dominant disorderGroup of diseasesSporadic primary aldosteronismAutosomal dominant disorderFH-IIIFH-IVGlucocorticoid therapyPathobiological aspectsDiagnostic evaluationRare disorderHyperaldosteronismFamilial formsBiochemical testingDominant disorderFH-IICommon formAldosteronismHypertensionDisordersVariable penetrance
2008
A Novel Form of Human Mendelian Hypertension Featuring Nonglucocorticoid-Remediable Aldosteronism
Geller DS, Zhang J, Wisgerhof MV, Shackleton C, Kashgarian M, Lifton RP. A Novel Form of Human Mendelian Hypertension Featuring Nonglucocorticoid-Remediable Aldosteronism. The Journal Of Clinical Endocrinology & Metabolism 2008, 93: 3117-3123. PMID: 18505761, PMCID: PMC2515083, DOI: 10.1210/jc.2008-0594.Peer-Reviewed Original ResearchConceptsGlucocorticoid-remediable aldosteronismAdrenal fasciculataAdministration of dexamethasoneAdrenal steroid productionAdrenal steroid biosynthesisNew familial formAge 7 yrSecondary hypertensionBilateral adrenalectomyMost patientsPrimary aldosteronismAdrenal weightClinical syndromeAdrenal glandCortisol secretionLeading causeAldosteronismHypertensionMedical treatmentAldosterone synthaseSteroid productionAutosomal dominant formCellular hypertrophyCortical compartmentFamilial forms
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