Introduction
Ulick syndrome (US), also called apparent mineralocorticoid excess (AME), is a rare autosomal recessive disorder caused by a genetic mutation of HSD11B2. Chr. 16q22.1. The HSD11B2 enzyme typically converts active cortisol into its inactive form. The HSD11B2 mutation will cause a deficiency of the enzyme, which in turn will induce more cortisol activation of the mineralocorticoid receptor resulting in hypertension [1]. However, the US may have an additional unknown enzyme that correlates with HSD11B2 activity or possibly some cortisol metabolizing enzyme [2].
Patients with the typical US show severe hypertension with both polyurea and polydipsia, low birth weight, hypokalemia, and low aldosterone. It is noted that US simulates all findings of primary aldosteronism except for the contrast low plasma aldosterone concentration. However, the severity of the symptoms can differ depending on the degree of the gene mutation [3].
US treatment involves decreasing cortisol endogenous synthesis or blocking the mineralocorticoid (MC) receptor. Dexamethasone 1.5 to 2 mg/day is usually the drug of choice but may not relieve all symptoms and has unwanted long-term side effects. Spironolactone or eplerenone -mineralocorticoid receptor blockers- can also be used to treat the US and correct hypokalemia. Some cases have reported that transplantation of a kidney with normal HSD11B2 activity had cured the disease [4].