Apparent mineralocorticoid excess

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Classification according to ICD-10
E26.1 Secondary hyperaldosteronism
ICD-10 online (WHO version 2019)

The Apparent Mineralocorticoid Excess (AME) is a rare inherited condition with the main feature of a pseudohyperaldosteronism with early onset severe arterial hypertension , reduced plasma levels of renin and aldosterone .

Synonyms are: Ulick syndrome; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; English Cortisol 11-Beta-Ketoreductase Deficiency

The first description comes from 1974 by EA Werder and coworkers, the term "Apparent Mineralocorticoid Excess" was coined in 1979 by the US-American doctors Stanley Ulick and coworkers.

distribution

The frequency is given as less than 1 in 1,000,000, so far fewer than 100 people have been reported. Inheritance is autosomal - recessive .

root cause

Of the disease are mutations in HSD11B2 - gene on chromosome 16 locus Q22.1 based, which for the 11-beta-hydroxysteroid dehydrogenase (11 beta-HSD2) encodes in the conversion of cortisol into cortisone is needed.

Classification

Depending on the extent of the clinical changes, a more pronounced form AME1 and a milder AME2 can be distinguished.

Clinical manifestations

Clinical criteria are:

diagnosis

The blood plasma contains low levels of renin , aldosterone and potassium , high levels of sodium and metabolic alkalosis . A massive increase in the cortisol / cortisone ratio or tetrahydroxylated metabolites (THF + allo-THF / THE) in the plasma and urine is groundbreaking .

The diagnosis can be confirmed by genetic testing .

Differential diagnosis

The following are to be distinguished:

  • Liddle Syndrome
  • other diseases with hypertension occurring in childhood
  • other forms of pseudohyperaldosteronism

therapy

Treatment can be with spironolactone and thiazide diuretics or by blocking ACTH secretion.

literature

  • JW Funder: Apparent mineralocorticoid excess. In: The Journal of steroid biochemistry and molecular biology. Vol. 165, Pt A01 2017, pp. 151-153, doi: 10.1016 / j.jsbmb.2016.03.010 , PMID 26956190 (review).
  • M. Palermo, M. Quinkler, PM Stewart: Síndrome do excesso aparente de mineralocorticóides: uma revisão. In: Arquivos brasileiros de endocrinologia e metabologia. Vol. 48, No. 5, October 2004, pp. 687-696, PMID 15761540 (review).

Individual evidence

  1. ↑ a b c d e f g Apparent mineralocorticoid excess. In: Orphanet (Rare Disease Database).
  2. ^ EA Werder, M. Zachmann, JA Vollmin, R. Veyrat and A. Prader: Unusual steroid excretion in a child with low renin hypertension. In: Research on Steroids Vol. 6 :, pp. 385-389, 1974.
  3. ↑ S. Ulick, LS Levine, P. Gunczler, G. Zanconato, LC Ramirez, W. Rauh, A. Rösler, HL Bradlow, MI New: A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol. In: The Journal of clinical endocrinology and metabolism. Vol. 49, No. 5, November 1979, pp. 757-764, doi: 10.1210 / jcem-49-5-757 , PMID 226561 .
  4. ^ Apparent mineralocorticoid excess.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ P. Ferrari: The role of 11β-hydroxysteroid dehydrogenase type 2 in human hypertension. In: Biochimica et Biophysica Acta . Vol. 1802, No. 12, December 2010, pp. 1178-1187, doi: 10.1016 / j.bbadis.2009.10.017 , PMID 19909806 (review).

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