Article
Apparent mineralocorticoid excess in Israel: a case series and literature review.
European journal of endocrinology - 2 May 2024
Lebel Asaf, Ben Shalom Efrat, Mokatern Rozan, Halevy Raphael, Zehavi Yoav, Magen Daniela
Abstract excerpt
BACKGROUND AND OBJECTIVE: Apparent mineralocorticoid excess (AME) syndrome is an ultra-rare autosomal-recessive tubulopathy, caused by mutations in HSD11B2, leading to excessive activation of the kidney mineralocorticoid receptor, and characterized by early-onset low-renin hypertension, hypokalemia, and risk of chronic kidney disease (CKD). To date, most reports included few patients, and none described patients...
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