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mineralocorticoid excess
Etiology:
- consumption of large amounts of liquorice can lead to apparent mineralocorticoid excess & hypertension
- genetic defects
Pathology:
- activation of the mineralocorticoid receptor by cortisol
- Na+ retention
Genetics:
- autosomal recessive
- associated with defects in HSD11B2 gene
Clinical manifestations:
- severe juvenile hypertension
- sequellae of Na+ retention
Laboratory:
- serum K+: hypokalemia
- serum bicarbonate: metabolic acidosis
- plasma renin: low
- plasma aldosterone: low
Complications:
- nephrocalcinosis
- potentially fatal
Management:
- avoid liquorice
- thiazide diuretics
- aldosterone antagonist, potassium-sparing diuretic
- spironolactone
- triamterene
- amiloride
Related
mineralocorticoid
Specific
hyperaldosteronism
General
genetic disease of the endocrine system
Database Correlations
OMIM 218030
References
- OMIM :accession 218030
- Medical Knowledge Self Assessment Program (MKSAP) 15, 17.
American College of Physicians, Philadelphia 2009, 2015,
- Zennaro MC, Rickard AJ, Boulkroun S.
Genetics of mineralocorticoid excess: an update for clinicians.
Eur J Endocrinol. 2013 Jun 1;169(1):R15-25. Review.
PMID: 23610123 Free Article
- Melcescu E, Phillips J, Moll G, Subauste JS, Koch CA.
11Beta-hydroxylase deficiency and other syndromes of
mineralocorticoid excess as a rare cause of endocrine
hypertension.
Horm Metab Res. 2012 Nov;44(12):867-78. Review.
PMID: 22932914