Apparent mineralocorticoid excess syndrome information
Medical condition
Apparent mineralocorticoid excess syndrome
Other names
AME, 11-beta-hydroxysteroid dehydrogenase deficiency type 2, Ulick syndrome.
Apparent mineralocorticoid excess syndrome has an autosomal recessive pattern of inheritance
Specialty
Medical genetics, endocrinology
Symptoms
Hypertension, hypokalemia, metabolic alkalosis, and low plasma renin activity.[1]
Apparent mineralocorticoid excess is an autosomal recessive[2] disorder causing hypertension (high blood pressure), hypernatremia (increased blood sodium concentration) and hypokalemia (decreased blood potassium concentration). It results from mutations in the HSD11B2 gene, which encodes the kidney isozyme of 11β-hydroxysteroid dehydrogenase type 2. In an unaffected individual, this isozyme inactivates circulating cortisol to the less active metabolite cortisone. The inactivating mutation leads to elevated local concentrations of cortisol in the aldosterone sensitive tissues like the kidney. Cortisol at high concentrations can cross-react and activate the mineralocorticoid receptor due to the non-selectivity of the receptor, leading to aldosterone-like effects in the kidney. This is what causes the hypokalemia, hypertension, and hypernatremia associated with the syndrome. Patients often present with severe hypertension and end-organ changes associated with it like left ventricular hypertrophy, retinal, renal and neurological vascular changes along with growth retardation and failure to thrive. In serum both aldosterone and renin levels are low.[3]
^Cite error: The named reference Palermo Quinkler Stewart 2004 pp. 687–696 was invoked but never defined (see the help page).
^Levtchenko, E. N.; Deinum, J.; Knoers, N. V. a. M.; Hermus, A. R.; Monnens, L. a. H.; Lenders, J. W. M. (2007). "Van gen naar ziekte; 'apparent mineralocorticoid excess'-syndroom, een syndroom met ogenschijnlijke overmaat aan mineralocorticoïden" [From gene to disease; 'apparent mineralocorticoid excess' syndrome, a syndrome with an apparent excess of mineral corticoids]. Nederlands Tijdschrift voor Geneeskunde (in Dutch). 151 (12): 692–694. hdl:11370/df94307a-2281-4450-93bf-a30c7bc2d0ab. PMID 17447595.
^Al-Harbi, Taiba; Al-Shaikh, Adnan (1 January 2012). "Apparent mineralocorticoid excess syndrome: report of one family with three affected children". Journal of Pediatric Endocrinology and Metabolism. 25 (11–12): 1083–8. doi:10.1515/jpem-2012-0113. PMID 23329753. S2CID 21281031.
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