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Apparent mineralocorticoid excess(AME)

MedGen UID:
90983
•Concept ID:
C0342488
•
Disease or Syndrome
Synonyms: AME; AME 1; Apparent Mineralocorticoid Excess Syndrome; Cortisol 11-beta-ketoreductase deficiency
SNOMED CT: Syndrome of apparent mineralocorticoid excess (237770005); AME - apparent mineralocorticoid excess (237770005); Apparent mineralocorticoid excess (237770005); 11-beta-hydroxysteroid dehydrogenase deficiency type 2 (237770005); Ulick syndrome (237770005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): HSD11B2 (16q22.1)
 
Monarch Initiative: MONDO:0009025
OMIM®: 218030
Orphanet: ORPHA320

Definition

Apparent mineralocorticoid excess (AME) is an autosomal recessive form of low-renin hypertension associated with low aldosterone, metabolic alkalosis, hypernatremia, and hypokalemia. The disorder is due to a congenital defect in 11-beta-hydroxysteroid dehydrogenase type II (HSD11B2) activity, resulting in decreased conversion of biologically active cortisol to inactive cortisone; this defect allows cortisol to act as a ligand for the mineralocorticoid receptor, resulting in sodium retention and volume expansion. There is a favorable therapeutic response to spironolactone (review by Ferrari, 2010). [from OMIM]

Clinical features

From HPO
Hypertensive disorder
MedGen UID:
6969
•Concept ID:
C0020538
•
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
See: Feature record | Search on this feature
Small for gestational age
MedGen UID:
65920
•Concept ID:
C0235991
•
Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
See: Feature record | Search on this feature
Short stature
MedGen UID:
87607
•Concept ID:
C0349588
•
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
See: Feature record | Search on this feature
Growth delay
MedGen UID:
99124
•Concept ID:
C0456070
•
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
See: Feature record | Search on this feature
Failure to thrive
MedGen UID:
746019
•Concept ID:
C2315100
•
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
See: Feature record | Search on this feature
Hypokalemia
MedGen UID:
5712
•Concept ID:
C0020621
•
Finding
An abnormally decreased potassium concentration in the blood.
See: Feature record | Search on this feature
Metabolic alkalosis
MedGen UID:
113134
•Concept ID:
C0220983
•
Pathologic Function
Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process.
See: Feature record | Search on this feature
Decreased circulating aldosterone concentration
MedGen UID:
208996
•Concept ID:
C0857899
•
Finding
Abnormally reduced levels of aldosterone.
See: Feature record | Search on this feature
Decreased circulating renin concentration
MedGen UID:
337182
•Concept ID:
C1845206
•
Finding
An decreased level of renin in the blood.
See: Feature record | Search on this feature
Hypertensive retinopathy
MedGen UID:
101819
•Concept ID:
C0152132
•
Disease or Syndrome
Retinopathy due to hypertension.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVApparent mineralocorticoid excess

Professional guidelines

PubMed

Therapeutic management of congenital forms of endocrine hypertension.
Charoensri S, Auchus RJ
Eur J Endocrinol 2023 Nov 8;189(5):R11-R22. doi: 10.1093/ejendo/lvad140. PMID: 37847213
Clinical, biochemical, and miRNA profile of subjects with positive screening of primary aldosteronism and nonclassic apparent mineralocorticoid excess.
Tapia-Castillo A, Carvajal CA, Pérez JA, Fardella CE
Endocrine 2022 Aug;77(2):380-391. Epub 2022 Jun 8 doi: 10.1007/s12020-022-03103-x. PMID: 35676467
Diagnosis of hypokalemia: a problem-solving approach to clinical cases.
Assadi F
Iran J Kidney Dis 2008 Jul;2(3):115-22. PMID: 19377223

Recent clinical studies

Etiology

Monogenic Etiology of Hypertension.
Singh V, Van Why SK
Med Clin North Am 2024 Jan;108(1):157-172. Epub 2023 Jul 27 doi: 10.1016/j.mcna.2023.06.005. PMID: 37951648
Therapeutic management of congenital forms of endocrine hypertension.
Charoensri S, Auchus RJ
Eur J Endocrinol 2023 Nov 8;189(5):R11-R22. doi: 10.1093/ejendo/lvad140. PMID: 37847213
Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.
Brocklebank V, Walsh PR, Smith-Jackson K, Hallam TM, Marchbank KJ, Wilson V, Bigirumurame T, Dutt T, Montgomery EK, Malina M, Wong EKS, Johnson S, Sheerin NS, Kavanagh D
Blood 2023 Oct 19;142(16):1371-1386. doi: 10.1182/blood.2022018833. PMID: 37369098Free PMC Article
Apparent mineralocorticoid excess.
Benediktsson R, Edwards CR
J Hum Hypertens 1994 May;8(5):371-5. PMID: 8064785
Steroids and hypertension.
Mantero F, Armanini D, Boscaro M, Carpenè G, Fallo F, Opocher G, Rocco S, Scaroni C, Sonino N
J Steroid Biochem Mol Biol 1991;40(1-3):35-44. doi: 10.1016/0960-0760(91)90165-2. PMID: 1958539

Diagnosis

Monogenic Etiology of Hypertension.
Singh V, Van Why SK
Med Clin North Am 2024 Jan;108(1):157-172. Epub 2023 Jul 27 doi: 10.1016/j.mcna.2023.06.005. PMID: 37951648
Low-Renin Hypertension.
Athimulam S, Lazik N, Bancos I
Endocrinol Metab Clin North Am 2019 Dec;48(4):701-715. Epub 2019 Sep 25 doi: 10.1016/j.ecl.2019.08.003. PMID: 31655771
Posaconazole-Induced Pseudohyperaldosteronism.
Kuriakose K, Nesbitt WJ, Greene M, Harris B
Antimicrob Agents Chemother 2018 May;62(5) Epub 2018 Apr 26 doi: 10.1128/AAC.02130-17. PMID: 29530850Free PMC Article
Apparent mineralocorticoid excess.
Funder JW
J Steroid Biochem Mol Biol 2017 Jan;165(Pt A):151-153. Epub 2016 Mar 5 doi: 10.1016/j.jsbmb.2016.03.010. PMID: 26956190
Diagnosis of hypokalemia: a problem-solving approach to clinical cases.
Assadi F
Iran J Kidney Dis 2008 Jul;2(3):115-22. PMID: 19377223

Therapy

Low-Renin Hypertension.
Athimulam S, Lazik N, Bancos I
Endocrinol Metab Clin North Am 2019 Dec;48(4):701-715. Epub 2019 Sep 25 doi: 10.1016/j.ecl.2019.08.003. PMID: 31655771
Posaconazole-Induced Pseudohyperaldosteronism.
Kuriakose K, Nesbitt WJ, Greene M, Harris B
Antimicrob Agents Chemother 2018 May;62(5) Epub 2018 Apr 26 doi: 10.1128/AAC.02130-17. PMID: 29530850Free PMC Article
Mineralocorticoid and apparent mineralocorticoid syndromes of secondary hypertension.
Ardhanari S, Kannuswamy R, Chaudhary K, Lockette W, Whaley-Connell A
Adv Chronic Kidney Dis 2015 May;22(3):185-95. doi: 10.1053/j.ackd.2015.03.002. PMID: 25908467
Diagnosis of hypokalemia: a problem-solving approach to clinical cases.
Assadi F
Iran J Kidney Dis 2008 Jul;2(3):115-22. PMID: 19377223
Investigating mineralocorticoid hypertension.
Nussberger J
J Hypertens Suppl 2003 May;21(2):S25-30. doi: 10.1097/00004872-200305002-00005. PMID: 12929904

Prognosis

Monogenic forms of low-renin hypertension: clinical and molecular insights.
Khandelwal P, Deinum J
Pediatr Nephrol 2022 Jul;37(7):1495-1509. Epub 2021 Aug 20 doi: 10.1007/s00467-021-05246-x. PMID: 34414500
Apparent mineralocorticoid excess caused by novel compound heterozygous mutations in HSD11B2 and characterized by early-onset hypertension and hypokalemia.
Fan P, Lu YT, Yang KQ, Zhang D, Liu XY, Tian T, Luo F, Wang LP, Ma WJ, Liu YX, Zhang HM, Song L, Cai J, Lou Y, Zhou XL
Endocrine 2020 Dec;70(3):607-615. Epub 2020 Aug 20 doi: 10.1007/s12020-020-02460-9. PMID: 32816205Free PMC Article
Classic and Nonclassic Apparent Mineralocorticoid Excess Syndrome.
Carvajal CA, Tapia-Castillo A, Vecchiola A, Baudrand R, Fardella CE
J Clin Endocrinol Metab 2020 Apr 1;105(4) doi: 10.1210/clinem/dgz315. PMID: 31909799
Clinical and Molecular Perspectives of Monogenic Hypertension.
Levanovich PE, Diaczok A, Rossi NF
Curr Hypertens Rev 2020;16(2):91-107. doi: 10.2174/1573402115666190409115330. PMID: 30963979Free PMC Article
Mineralocorticoid hypertension and hypokalemia.
Khosla N, Hogan D
Semin Nephrol 2006 Nov;26(6):434-40. doi: 10.1016/j.semnephrol.2006.10.004. PMID: 17275580

Clinical prediction guides

In vitro methods to assess 11β-hydroxysteroid dehydrogenase type 2 activity.
Kley M, Moser SO, Winter DV, Odermatt A
Methods Enzymol 2023;689:167-200. Epub 2023 Apr 27 doi: 10.1016/bs.mie.2023.04.005. PMID: 37802570
Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.
Brocklebank V, Walsh PR, Smith-Jackson K, Hallam TM, Marchbank KJ, Wilson V, Bigirumurame T, Dutt T, Montgomery EK, Malina M, Wong EKS, Johnson S, Sheerin NS, Kavanagh D
Blood 2023 Oct 19;142(16):1371-1386. doi: 10.1182/blood.2022018833. PMID: 37369098Free PMC Article
Clinical, biochemical, and miRNA profile of subjects with positive screening of primary aldosteronism and nonclassic apparent mineralocorticoid excess.
Tapia-Castillo A, Carvajal CA, Pérez JA, Fardella CE
Endocrine 2022 Aug;77(2):380-391. Epub 2022 Jun 8 doi: 10.1007/s12020-022-03103-x. PMID: 35676467
Apparent mineralocorticoid excess caused by novel compound heterozygous mutations in HSD11B2 and characterized by early-onset hypertension and hypokalemia.
Fan P, Lu YT, Yang KQ, Zhang D, Liu XY, Tian T, Luo F, Wang LP, Ma WJ, Liu YX, Zhang HM, Song L, Cai J, Lou Y, Zhou XL
Endocrine 2020 Dec;70(3):607-615. Epub 2020 Aug 20 doi: 10.1007/s12020-020-02460-9. PMID: 32816205Free PMC Article
Glucocorticoids and gut bacteria: "The GALF Hypothesis" in the metagenomic era.
Morris DJ, Ridlon JM
Steroids 2017 Sep;125:1-13. Epub 2017 Jun 15 doi: 10.1016/j.steroids.2017.06.002. PMID: 28624548

Recent systematic reviews

Antifungal Therapy with Azoles Induced the Syndrome of Acquired Apparent Mineralocorticoid Excess: a Literature and Database Analysis.
Ji HH, Tang XW, Zhang N, Huo BN, Liu Y, Song L, Jia YT
Antimicrob Agents Chemother 2022 Jan 18;66(1):e0166821. Epub 2021 Oct 18 doi: 10.1128/AAC.01668-21. PMID: 34662186Free PMC Article
Apparent mineralocorticoid excess caused by novel compound heterozygous mutations in HSD11B2 and characterized by early-onset hypertension and hypokalemia.
Fan P, Lu YT, Yang KQ, Zhang D, Liu XY, Tian T, Luo F, Wang LP, Ma WJ, Liu YX, Zhang HM, Song L, Cai J, Lou Y, Zhou XL
Endocrine 2020 Dec;70(3):607-615. Epub 2020 Aug 20 doi: 10.1007/s12020-020-02460-9. PMID: 32816205Free PMC Article
Apparent Mineralocorticoid Excess in the Pediatric Population: Report of a Novel Pathogenic Variant of the 11β-HSD2 Gene and Systematic Review of the Literature.
Adamidis A, Cantas-Orsdemir S, Tsirka A, Abbott MA, Visintainer P, Tonyushkina K
Pediatr Endocrinol Rev 2019 Mar;16(3):335-358. doi: 10.17458/per.vol16.2019.act.mineralocorticoid. PMID: 30888125

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