Apparent mineralocorticoid excess syndrome
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
Signs and symptoms
This disorder presents similarly to hyperaldosteronism, leading to feedback inhibition of aldosterone. Common symptoms include hypertension, hypokalemia, metabolic alkalosis, and low plasma renin activity.[1]
DOC excess syndrome is an excessive secretion of
Genetics
AME is inherited in an autosomal recessive manner.
Diagnosis
Other conditions such as
Treatment
The treatment for AME is based on the blood pressure control with Aldosterone antagonist like Spironolactone which also reverses the hypokalemic metabolic alkalosis and other anti-hypertensives. Renal transplant is found curative in almost all clinical cases.[10] AME is exceedingly rare, with fewer than 100 cases recorded worldwide.[8]
History
Apparent mineralocorticoid excess is a rare form of monogenic hypertension that is transmitted as an autosomal recessive trait. The clinical symptoms of AME were first reported in 1974 by a Professor from Switzerland; Edmond A Werder in a 3-year-old girl with low birth weight, delayed growth, polydipsia, polyuria, and hypertension. In 1977, the US Professor Maria New identified patients with similar symptoms, characterized their biochemical profiles, and named the disease AME. Initially, it was speculated that HSD11B1 (encoding 11β-hydroxysteroid dehydrogenase type 1 [11β-HSD1]) was the causative gene but no mutation was detected in AME patients; thus, the focus was shifted to other candidate genes. In 1995, the US Professor Robert Wilson identified the first HSD11B2 mutation in several siblings with typical characteristics of AME from a consanguineous Iranian family, unraveling the genetic defects of AME. The molecular pathogenesis of AME primarily results from a deficiency in the enzyme 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2), which is involved in the peripheral metabolism of cortisol. In 1999, B. Scott Nunez; another US professor, summarized the AME genotype–phenotype correlation by studying 14 affected children and proposed that clinical and/or biochemical parameters and enzyme activity were closely related [11]
Liquorice effect
Liquorice consumption may also cause a temporary form of AME due to its ability to block 11β-hydroxysteroid dehydrogenase type 2, in turn causing increased levels of cortisol.[12][13] Cessation of licorice consumption will reverse this form of AME.[14]
See also
- Inborn errors of steroid metabolism
- 11β-Hydroxylase I deficiency
- Hyperaldosteronism
- Pseudohyperaldosteronism
- Glucocorticoid-remediable aldosteronism
- Aldosterone and aldosterone synthase
- Maria New
References
- ^ PMID 15761540.
- ^ PMID 17447595.
- S2CID 21281031.
- PMID 31051469.
- PMID 20671982.
- ^ Deoxycorticosterone (DOC) at eMedicine
- ^ "Autosomal recessive: MedlinePlus Medical Encyclopedia". MedlinePlus. Retrieved November 10, 2023.
- ^ PMID 15761540.
- PMID 11688373. Retrieved November 10, 2023.
- ISBN 9780123411037.
- PMID 36329487.)
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: CS1 maint: multiple names: authors list (link - ^ "HSD11B2 Gene". GeneCards.
- S2CID 20098685.
- PMID 28148579.
External links
- Apparent mineralocorticoid excess at NIH's Office of Rare Diseases