Very rare. Phenotypic expression is highly variable. Common traits: variable systemic hypertension that often appears in childhood or adolescence. Low plasma renine level and high levels of aldosterone. Sometimes hypokalemia.

·       familial type I hyperaldosteronism (HALD1, MIM 103 900) or dexamethasone-sensitive hypertension. Dominant autosomal transmission of a fusion of the CYP11B2 and CYP11B1 genes (8q24.3). Sometimes adrenal adenomas. High level of urinary 18-hydroxycortisol. The administration of dexamethasone helps to control the high blood pressure.

·       familial type II hyperaldosteronism (HALD2, MIM 605 635) caused by a mutation of the CLCN2 gene (3q27). Treatment with spironolactone is effective.

·       familial type III hyperaldosteronism (HALD3; MIM 613 677) caused by a mutation of the KCNJ5 gene (11q24). Hypertension is  resistant to treatment: adrenalectomy is often necessary.

·       familialtype IV hyperaldosteronism (HALD4; MIM 617 027) caused by a mutation of the CACNA1H gene (16p13).

Anesthetic implications: 

check the ionogram and the blood pressure control of systemic hypertension.

References : 

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Updated: December 2019