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].