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Pseudohyperaldosteronism type 2

MedGen UID:
343170
•Concept ID:
C1854631
•
Disease or Syndrome
Synonym: Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy
 
Gene (location): NR3C2 (4q31.23)
 
Monarch Initiative: MONDO:0011517
OMIM®: 605115
Orphanet: ORPHA88660

Definition

Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery. [from ORDO]

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
Decreased circulating aldosterone level
MedGen UID:
208996
•Concept ID:
C0857899
•
Finding
Abnormally reduced levels of aldosterone.
See: Feature record | Search on this feature
Decreased circulating renin level
MedGen UID:
337182
•Concept ID:
C1845206
•
Finding
An decreased level of renin in the blood.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPseudohyperaldosteronism type 2
Follow this link to review classifications for Pseudohyperaldosteronism type 2 in Orphanet.

Professional guidelines

PubMed

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

Exploration for the real causative agents of licorice-induced pseudoaldosteronism.
Makino T
J Nat Med 2021 Mar;75(2):275-283. Epub 2021 Jan 22 doi: 10.1007/s11418-021-01484-3. PMID: 33481180Free PMC Article
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
Syndromes that Mimic an Excess of Mineralocorticoids.
Sabbadin C, Armanini D
High Blood Press Cardiovasc Prev 2016 Sep;23(3):231-5. Epub 2016 Jun 1 doi: 10.1007/s40292-016-0160-5. PMID: 27251484
Inherited forms of mineralocorticoid hypertension.
Hassan-Smith Z, Stewart PM
Curr Opin Endocrinol Diabetes Obes 2011 Jun;18(3):177-85. doi: 10.1097/MED.0b013e3283469444. PMID: 21494136
Heritable forms of hypertension.
Vehaskari VM
Pediatr Nephrol 2009 Oct;24(10):1929-37. Epub 2007 Jul 24 doi: 10.1007/s00467-007-0537-8. PMID: 17647025Free PMC Article

Diagnosis

SARS-CoV-2 evolution during treatment of chronic infection.
Kemp SA, Collier DA, Datir RP, Ferreira IATM, Gayed S, Jahun A, Hosmillo M, Rees-Spear C, Mlcochova P, Lumb IU, Roberts DJ, Chandra A, Temperton N; CITIID-NIHR BioResource COVID-19 Collaboration; COVID-19 Genomics UK (COG-UK) Consortium, Sharrocks K, Blane E, Modis Y, Leigh KE, Briggs JAG, van Gils MJ, Smith KGC, Bradley JR, Smith C, Doffinger R, Ceron-Gutierrez L, Barcenas-Morales G, Pollock DD, Goldstein RA, Smielewska A, Skittrall JP, Gouliouris T, Goodfellow IG, Gkrania-Klotsas E, Illingworth CJR, McCoy LE, Gupta RK
Nature 2021 Apr;592(7853):277-282. Epub 2021 Feb 5 doi: 10.1038/s41586-021-03291-y. PMID: 33545711Free PMC Article
Diagnostic approach to low-renin hypertension.
Monticone S, Losano I, Tetti M, Buffolo F, Veglio F, Mulatero P
Clin Endocrinol (Oxf) 2018 Oct;89(4):385-396. Epub 2018 Jun 6 doi: 10.1111/cen.13741. PMID: 29758100
Syndromes that Mimic an Excess of Mineralocorticoids.
Sabbadin C, Armanini D
High Blood Press Cardiovasc Prev 2016 Sep;23(3):231-5. Epub 2016 Jun 1 doi: 10.1007/s40292-016-0160-5. PMID: 27251484
Genetics of hypertensive syndrome.
Martinez-Aguayo A, Fardella C
Horm Res 2009;71(5):253-9. Epub 2009 Apr 1 doi: 10.1159/000208798. PMID: 19339789
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

SARS-CoV-2 evolution during treatment of chronic infection.
Kemp SA, Collier DA, Datir RP, Ferreira IATM, Gayed S, Jahun A, Hosmillo M, Rees-Spear C, Mlcochova P, Lumb IU, Roberts DJ, Chandra A, Temperton N; CITIID-NIHR BioResource COVID-19 Collaboration; COVID-19 Genomics UK (COG-UK) Consortium, Sharrocks K, Blane E, Modis Y, Leigh KE, Briggs JAG, van Gils MJ, Smith KGC, Bradley JR, Smith C, Doffinger R, Ceron-Gutierrez L, Barcenas-Morales G, Pollock DD, Goldstein RA, Smielewska A, Skittrall JP, Gouliouris T, Goodfellow IG, Gkrania-Klotsas E, Illingworth CJR, McCoy LE, Gupta RK
Nature 2021 Apr;592(7853):277-282. Epub 2021 Feb 5 doi: 10.1038/s41586-021-03291-y. PMID: 33545711Free PMC Article
Exploration for the real causative agents of licorice-induced pseudoaldosteronism.
Makino T
J Nat Med 2021 Mar;75(2):275-283. Epub 2021 Jan 22 doi: 10.1007/s11418-021-01484-3. PMID: 33481180Free PMC Article
Molecular mechanisms of posaconazole- and itraconazole-induced pseudohyperaldosteronism and assessment of other systemically used azole antifungals.
Beck KR, Telisman L, van Koppen CJ, Thompson GR 3rd, Odermatt A
J Steroid Biochem Mol Biol 2020 May;199:105605. Epub 2020 Jan 23 doi: 10.1016/j.jsbmb.2020.105605. PMID: 31982514
Syndromes that Mimic an Excess of Mineralocorticoids.
Sabbadin C, Armanini D
High Blood Press Cardiovasc Prev 2016 Sep;23(3):231-5. Epub 2016 Jun 1 doi: 10.1007/s40292-016-0160-5. PMID: 27251484
Diagnosis of hypokalemia: a problem-solving approach to clinical cases.
Assadi F
Iran J Kidney Dis 2008 Jul;2(3):115-22. PMID: 19377223

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
SARS-CoV-2 evolution during treatment of chronic infection.
Kemp SA, Collier DA, Datir RP, Ferreira IATM, Gayed S, Jahun A, Hosmillo M, Rees-Spear C, Mlcochova P, Lumb IU, Roberts DJ, Chandra A, Temperton N; CITIID-NIHR BioResource COVID-19 Collaboration; COVID-19 Genomics UK (COG-UK) Consortium, Sharrocks K, Blane E, Modis Y, Leigh KE, Briggs JAG, van Gils MJ, Smith KGC, Bradley JR, Smith C, Doffinger R, Ceron-Gutierrez L, Barcenas-Morales G, Pollock DD, Goldstein RA, Smielewska A, Skittrall JP, Gouliouris T, Goodfellow IG, Gkrania-Klotsas E, Illingworth CJR, McCoy LE, Gupta RK
Nature 2021 Apr;592(7853):277-282. Epub 2021 Feb 5 doi: 10.1038/s41586-021-03291-y. PMID: 33545711Free PMC Article
Molecular mechanisms of posaconazole- and itraconazole-induced pseudohyperaldosteronism and assessment of other systemically used azole antifungals.
Beck KR, Telisman L, van Koppen CJ, Thompson GR 3rd, Odermatt A
J Steroid Biochem Mol Biol 2020 May;199:105605. Epub 2020 Jan 23 doi: 10.1016/j.jsbmb.2020.105605. PMID: 31982514
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
Inherited renal tubulopathies associated with metabolic alkalosis: effects on blood pressure.
Ariceta G, Rodríguez-Soriano J
Semin Nephrol 2006 Nov;26(6):422-33. doi: 10.1016/j.semnephrol.2006.10.002. PMID: 17275579

Clinical prediction guides

SARS-CoV-2 evolution during treatment of chronic infection.
Kemp SA, Collier DA, Datir RP, Ferreira IATM, Gayed S, Jahun A, Hosmillo M, Rees-Spear C, Mlcochova P, Lumb IU, Roberts DJ, Chandra A, Temperton N; CITIID-NIHR BioResource COVID-19 Collaboration; COVID-19 Genomics UK (COG-UK) Consortium, Sharrocks K, Blane E, Modis Y, Leigh KE, Briggs JAG, van Gils MJ, Smith KGC, Bradley JR, Smith C, Doffinger R, Ceron-Gutierrez L, Barcenas-Morales G, Pollock DD, Goldstein RA, Smielewska A, Skittrall JP, Gouliouris T, Goodfellow IG, Gkrania-Klotsas E, Illingworth CJR, McCoy LE, Gupta RK
Nature 2021 Apr;592(7853):277-282. Epub 2021 Feb 5 doi: 10.1038/s41586-021-03291-y. PMID: 33545711Free PMC Article
Species-specific differences in the inhibition of 11β-hydroxysteroid dehydrogenase 2 by itraconazole and posaconazole.
Inderbinen SG, Zogg M, Kley M, Smieško M, Odermatt A
Toxicol Appl Pharmacol 2021 Feb 1;412:115387. Epub 2020 Dec 31 doi: 10.1016/j.taap.2020.115387. PMID: 33387577
Molecular mechanisms of posaconazole- and itraconazole-induced pseudohyperaldosteronism and assessment of other systemically used azole antifungals.
Beck KR, Telisman L, van Koppen CJ, Thompson GR 3rd, Odermatt A
J Steroid Biochem Mol Biol 2020 May;199:105605. Epub 2020 Jan 23 doi: 10.1016/j.jsbmb.2020.105605. PMID: 31982514
Isolation of a novel glycyrrhizin metabolite as a causal candidate compound for pseudoaldosteronism.
Morinaga O, Ishiuchi K, Ohkita T, Tian C, Hirasawa A, Mitamura M, Maki Y, Yasujima T, Yuasa H, Makino T
Sci Rep 2018 Oct 22;8(1):15568. doi: 10.1038/s41598-018-33834-9. PMID: 30348944Free PMC Article
CD36-dependent signaling mediates fatty acid-induced gut release of secretin and cholecystokinin.
Sundaresan S, Shahid R, Riehl TE, Chandra R, Nassir F, Stenson WF, Liddle RA, Abumrad NA
FASEB J 2013 Mar;27(3):1191-202. Epub 2012 Dec 11 doi: 10.1096/fj.12-217703. PMID: 23233532Free PMC Article

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