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Familial Hyperaldosteronism type I

المؤلف:  Wass, J. A. H., Arlt, W., & Semple, R. K. (Eds.).

المصدر:  Oxford Textbook of Endocrinology and Diabetes

الجزء والصفحة:  3rd edition , p864

2026-07-27

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Familial hyperaldosteronism type I (FH- I), also called glucocorticoid- remediable aldosteronism (GRA), is an autosomal dominant disease characterized by severe hypertension typically occurring during childhood. Patients present with PA of variable severity, bi lateral adrenal hyperplasia, with associated adrenal nodules in some cases, and high production of the hybrid steroids 18- hydroxycortisol and 18- oxocortisol. The genetic abnormality underlying FH- I is a chimeric gene generated by an unequal crossing- over event, fusing the regulatory regions of CYP11B1 to the coding sequence of CYP11B2. This leads to ectopic expression of CYP11B2 throughout the adrenal cortex, with inappropriate regulation of aldosterone biosynthesis by ACTH, following the circadian rhythmicity of cortisol production. Patients respond well to treatment with exogenous glucocorticoids, which inhibit ACTH pro duction. The prevalence of FH- I has been estimated at around 0.6% of PA patients. However, the frequency seems to be higher in the hypertensive paediatric population, where a prevalence of the chimeric CYP11B1/ CYP11B2 gene of 3% has been reported. Among the peculiar features of FH- I is the high morbidity and mortality at early age, due to the occurrence of early- onset haemorrhagic stroke and ruptured intracranial aneurysms.