Apparent mineralocorticoid excess in Israel: a case series and literature review.

This article focuses on the clinical, genetic, and long-term follow-up characteristics of apparent mineralocorticoid excess (AME) syndrome, an ultra-rare autosomal-recessive tubulopathy caused by mutations in the HSD11B2 gene, in seven Israeli patients from two families. AME is characterized by early-onset low-renin hypertension, hypokalemia, nephrocalcinosis, and risk of chronic kidney disease (CKD). The study identified two novel homozygous HSD11B2 mutations and found that patients presenting in early childhood maintained normal kidney function with intensive antihypertensive treatment, while those presenting later with CKD progressed to end-stage kidney disease requiring dialysis and transplantation. Despite early diagnosis and management, AME remains associated with serious complications, underscoring the need for careful long-term monitoring and therapy optimization.